gamma 2

The gamma chain of the high affinity functional human IL-2 receptor complex belongs to the hematopoietin receptor family. IL-2 R gamma is a 369 amino acid residue protein consisting of a 22 residue signal sequence, a 232 residue extracellular domain, a 29 residue transmembrane domain and an 86 residue cytoplasmic domain. Although IL-2 R gamma by itself does not bind IL-2 with any appreciable affinity, it is required for IL-2 receptor signaling. IL-2 R gamma CD132 Protein, Human, Recombinant (His & Avi), Biotinylated is expressed in HEK293 mammalian cells with C-His-Avi tag. The predicted molecular weight is 39.9 kDa and the accession number is P31785-1.

Casein kinase I gamma 2 isoform (CSNK1G2), a member of the large casein kinase I (CKI) subfamily, protein kinase superfamily. It may affect the development of brain, and associate with vesicular trafficking and neurotransmitter releasing from small synaptic vesicles. The CKI family includes several other isoforms (alpha, beta, gamma, and delta). Dishevelled (Dsh), another positive component of the Wnt pathway, becomes phosphorylated in response to Wnt signals. All the CKI isoforms, with the exception of gamma, increase the phosphorylation of Dsh in vivo. Casein kinase 1 gamma (CK1gamma, or CSNK1G) is associated with the cell membrane and binds to LRP. CK1gamma was found to be needed for Wnt signaling through Wnt receptor LRP. CSNK1G2 inhibits Smad3-mediated TGF-beta responses including induction of target genes and cell growth arrest, and this inhibition is dependent on CSNK1G2 kinase activity. The overexpression of CSNK1G2 in human cancers, may act as an oncoprotein during tumorigenesis. In addition, as an MTA1s-binding protein, CSNK1G2 could further potentiate the estrogen receptor (ER) corepressive function of MTA1s.

Human Fc gamma RIIIA CD16a Protein is a receptor for the Fc region of IgG. Binds complexed or aggregated IgG and also monomeric IgG. Mediates antibody-dependent cellular cytotoxicity (ADCC) and other antibody-dependent responses, such as phagocytosis. Fc gamma RIIIA CD16a (V176) Domain 2 Protein, Human, Recombinant (mFc) is expressed in HEK293 mammalian cells with C-mFc tag. The predicted molecular weight is 35.29 kDa and the accession number is AAH17865.

The gamma chain of the high affinity functional human IL-2 receptor complex belongs to the hematopoietin receptor family. IL-2 R gamma is a 369 amino acid residue protein consisting of a 22 residue signal sequence, a 232 residue extracellular domain, a 29 residue transmembrane domain and an 86 residue cytoplasmic domain. Although IL-2 R gamma by itself does not bind IL-2 with any appreciable affinity, it is required for IL-2 receptor signaling. IL-2 R gamma CD132 Protein (Primary Amine Labeling), Cynomolgus, Recombinant (His), Biotinylated is expressed in HEK293 mammalian cells with C-His tag. The predicted molecular weight is 28.2 kDa and the accession number is Q38JL2.

The gamma chain of the high affinity functional human IL-2 receptor complex belongs to the hematopoietin receptor family. IL-2 R gamma is a 369 amino acid residue protein consisting of a 22 residue signal sequence, a 232 residue extracellular domain, a 29 residue transmembrane domain and an 86 residue cytoplasmic domain. Although IL-2 R gamma by itself does not bind IL-2 with any appreciable affinity, it is required for IL-2 receptor signaling. IL-2 R gamma CD132 Protein, Human, Recombinant (His & Avi) is expressed in HEK293 mammalian cells with C-His-Avi tag. The predicted molecular weight is 39.9 kDa and the accession number is P31785-1.

The gamma chain of the high affinity functional human IL-2 receptor complex belongs to the hematopoietin receptor family. IL-2 R gamma is a 369 amino acid residue protein consisting of a 22 residue signal sequence, a 232 residue extracellular domain, a 29 residue transmembrane domain and an 86 residue cytoplasmic domain. Although IL-2 R gamma by itself does not bind IL-2 with any appreciable affinity, it is required for IL-2 receptor signaling. IL-2 R gamma CD132 Protein, Cynomolgus, Recombinant (His) is expressed in HEK293 mammalian cells with C-His tag. The predicted molecular weight is 28.2 kDa and the accession number is Q38JL2.

Thymopentin is a member of the LEM family. Thymopentin is expressed in many tissues, highly in the adult thymus and fetal liver. The N-terminal contains two structurally independent domains, LEM domain and LEM-like domain. The C-terminal domain forms a four-stranded coiled coil. Thymopentin may be involved in the structural organization of the nucleus and in the post-mitotic nuclear assembly. It is associated with T-cell development and function. Meantime, Thymopentin plays an important role, together with LMNA, in the nuclear anchorage of RB1. Thymopoietin is participated in the induction of CD90 in the thymus.

Protein-glutamine gamma-glutamyltransferase 2 (TGM2) is a 78-kDa, calcium dependent enzyme,It belongs to the transglutaminase superfamily and transglutaminase family. The protein encoded by this TGM2 gene acts as a monomer, is induced by retinoic acid, and appears to be involved in apoptosis. TGM2 is the autoantigen implicated in celiac disease. Two transcript variants encoding different isoforms have been found for this gene.

IL-2RG Protein, Human, Recombinant (hFc) is expressed in HEK293 mammalian cells with hFc tag. The predicted molecular weight is 54.4 kDa and the accession number is P31785.

Interleukin-36 gamma (IL-36γ) is a member of the interleukin 1 cytokine family that includes three closely related genes, IL-36α, β, and γ, formerly known as IL-1F6, F8, and F9 respectively. IL-36α has been detected in both neuronal and synovial tissue, whereas IL-36β and IL-36γ are expressed in both cutaneous and mucosal epithelial cells, including the respiratory tract. IL-36β and IL-36γ stimulate proliferation, maturation and or cytokine expression by innate immune cells (such as keratinocytes and dendritic cells), and adaptive immune cells (neutrophils and T-cells) in both humans and mice. The activity of IL-36α is mediated by interleukin 1 receptor-like 2 (IL1RL2 IL1R-rp2), and is specifically inhibited by interleukin 1 family, member 5 (IL1F5 IL-1 delta). IL-36γ plays an important role in communicating the cell death to surrounding cells.

Human Fc gamma RIIIB CD16b Protein is a receptor for the Fc region of immunoglobulins gamma. Low affinity receptor. Binds complexed or aggregated IgG and also monomeric IgG. Contrary to III-A, is not capable to mediate antibody-dependent cytotoxicity and phagocytosis. May serve as a trap for immune complexes in the peripheral circulation which does not activate neutrophils. Fc gamma RIIIB CD16b (NA2) Protein, Human, Recombinant (His & Avi) is expressed in HEK293 mammalian cells with C-His-Avi tag. The predicted molecular weight is 23.7 kDa and the accession number is O75015-1.

Human Fc gamma RIIIB CD16b Protein is a receptor for the Fc region of immunoglobulins gamma. Low affinity receptor. Binds complexed or aggregated IgG and also monomeric IgG. Contrary to III-A, is not capable to mediate antibody-dependent cytotoxicity and phagocytosis. May serve as a trap for immune complexes in the peripheral circulation which does not activate neutrophils. Fc gamma RIIIB CD16b (NA2) Protein, Human, Recombinant (His & Avi), Biotinylated is expressed in HEK293 mammalian cells with C-His-Avi tag. The predicted molecular weight is 23.7 kDa and the accession number is O75015-1.

Toxin that seems to act by forming pores in the membrane of the cell. Has a hemolytic and a leucotoxic activity. HlgA Protein, S. aureus, Recombinant (His & Myc) is expressed in E. coli expression system with N-10xHis and C-Myc tag. The predicted molecular weight is 39.4 kDa and the accession number is P0A073.

IL-2RG Protein, Mouse, Recombinant (His) is expressed in HEK293 mammalian cells with His tag. The predicted molecular weight is 30 kDa and the accession number is P34902.

The combination of silencing ENO2 and 2-deoxyglucose (2-DG) synergistically inhibited leukemia cell survival. ENO2 may be a biological marker for monitoring chemotherapeutic efficacy and relapse in ALL. Reduced ENO2 expression may be a biomarker for a subset of autistic children. Neuron specific enolase (ENO2, gamma-enolase) has been used as a biomarker to help identify neuroendocrine differentiation in breast cancer.

IL-2RG Protein, Rat, Recombinant (His) is expressed in HEK293 mammalian cells with His tag. The predicted molecular weight is 29.5 kDa and the accession number is Q68FU6.

IL-2RG Protein, Human, Recombinant (His & Avi), Biotinylated is expressed in HEK293 mammalian cells with His and Avi tag. The predicted molecular weight is 31.53 kDa and the accession number is NP_000197.1.

IL-2RG Protein, Rhesus, Recombinant (His) is expressed in HEK293 mammalian cells with His tag. The predicted molecular weight is 28.82 kDa and the accession number is Q38JL2.

The Interleukin-2 receptor gamma chain (IL-2 Rγ, CD132) of the high affinity functional mouse IL-2 receptor complex is a member the hematopoietin receptor family. It is expressed on most lymphocyte (white blood cell) populations, and its gene is found on the X-chromosome of mammals. Common IL2 receptor-γ Chain is required for IL-2 receptor signaling. Besides IL-2, the Common IL2 receptor-γ chain has been shown to be a component of the functional receptor complexes for IL-4, IL-7, IL-9 and IL-15. It is a component of multiple cytokine receptors that are essential for lymphocyte development and function. Common IL2 receptor-γ Chain is also designated the common gamma chain.

Growth Arrest and DNA Damage-Inducible Protein GADD45 Υ (GADD45G) is a nuclear protein which belongs to the GADD45 family. GADD45G is highly expressed in placenta. GADD45G interacts with various proteins whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. GADD45G responds to environmental stresses by mediating activation of the p38 JNK pathway via MTK1 MEKK4 kinase. GADD45G is also involved in the regulation of growth and apoptosis. GADD45G inhibits cell growth and differentiation by androgens. The mRNA expression is down-regulated in hepatocellular carcinoma.

C-C motif chemokine 9(CCL9) is an 11 kDa, secreted, monomeric polypeptide that belongs to the beta (or CC) intercrine family of chemokines. It is expressed mainly in the liver, lung, and the thymus, although some expression has been detected in a wide variety of tissues except brain. Monokine has inflammatory, pyrogenic and chemokinetic properties. It circulates at high concentrations in the blood of healthy animals. Binding to a high-affinity receptor，it activates calcium release in neutrophils. It also inhibits colony formation of bone marrow myeloid immature progenitors. CCL9 can activate osteoclasts through its receptor CCR1 (the most abundant chemokine receptor found on osteoclasts) suggesting an important role for CCL9 in bone resorption.

Catalyzes the conversion of gamma-aminobutyrate and L-beta-aminoisobutyrate to succinate semialdehyde and methylmalonate semialdehyde, respectively. Can also convert delta-aminovalerate and beta-alanine. ABAT Protein, Human, Recombinant (His & Myc & SUMO) is expressed in E. coli expression system with N-10xHis-SUMO and C-Myc tag. The predicted molecular weight is 73.3 kDa and the accession number is P80404.

PSENEN Protein, Human, Recombinant (His) is expressed in E. coli expression system with N-10xHis tag. The predicted molecular weight is 14.8 kDa and the accession number is Q9NZ42.

Monokine with inflammatory and chemokinetic properties.

Crystallins are the dominant structural components of the vertebrate eye lens.

IgG2 Protein, Human, Recombinant (S257A) is expressed in HEK293 mammalian cells. The predicted molecular weight is 25 kDa and the accession number is P01859.

IL-2RG Protein, Rat, Recombinant (hFc) is expressed in HEK293 mammalian cells with hFc tag. The predicted molecular weight is 55 kDa and the accession number is Q68FU6.

BBOX1, also known as gamma-BBH, belongs to thegamma-BBH TMLD family. It is highly expressed in kidney and moderately expressed in liver. BBOX1 catalyzes the formation of L-carnitine from gamma-butyrobetaine, the last step in the L-carnitine biosynthetic pathway. Carnitine is essential for the transport of activated fatty acids across the mitochondrial membrane during mitochondrial beta-oxidation. BBOX1 is an inhibition target for mildronate which can be used to treatanginaandmyocardial infarction. Mildronate may also be beneficial for the treatment ofneurological disorder,diabetes, andseizures andalcohol intoxication.

WARS, also known as TrpRS, is an aminoacyl-tRNA synthetase that belongs to the class-I aminoacyl-tRNA synthetase family. There are two forms of tryptophanyl-tRNA synthetase: a cytoplasmic form, named WARS, and a mitochondrial form, named WARS2. They catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. WARS catalyzes the aminoacylation of tRNA(trp) with tryptophan and is induced by interferon.

AKT3 Protein, Human, Recombinant (GST) is expressed in Baculovirus insect cells with GST tag. The predicted molecular weight is 81 kDa and the accession number is Q9Y243-1.

Signal-Regulatory Protein Gamma (SIRPG) is a member of the signal-regulatory protein (SIRP) family and also belongs to the immunoglobulin superfamily. SIRPG is detected in the liver, and at very low levels in the brain, heart, lung, pancreas, kidney, placenta, and skeletal muscle. SIRPG is an immunoglobulin-like cell surface receptor. On binding with CD47, SIRPG mediates cell-cell adhesion. Engagement on T-cells by CD47 on antigen-presenting cells results in enhanced antigen-specific T-cell proliferation and costimulates T-cell activation. SIRPG as receptor-type transmembrane glycoproteins is involved in the negative regulation of receptor tyrosine kinase-coupled signaling processes.

Signal regulatory protein gamma (SIRP gamma, designated CD172g), also called SIRP beta 2, is a monomeric 45-47 kDa type I transmembrane protein belonging to the SIRP SHPS (CD172) family of the Ig superfamily.SIRP gamma is probable immunoglobulin-like cell surface receptor. On binding with CD47, mediates cell-cell adhesion. Engagement on T-cells by CD47 on antigen-presenting cells results in enhanced antigen-specific T-cell proliferation and costimulates T-cell activation. SIRP gamma Protein, Human, Recombinant (His & Avi), Biotinylated is expressed in HEK293 mammalian cells with C-His-Avi tag. The predicted molecular weight is 39.7 kDa and the accession number is Q9P1W8.

GABRB2 Protein, Human, Recombinant (His) is expressed in E. coli expression system with N-6xHis tag. The predicted molecular weight is 29.3 kDa and the accession number is P47870.

IL-2RG Protein, Mouse, Recombinant (His & hFc) is expressed in HEK293 mammalian cells with His and hFc tag. The predicted molecular weight is 56.3 kDa and the accession number is P34902.

TFAP2C, also known as AP2-GAMMA, is a member of the activating protein 2 family of transcription factors. AP-2 factors bind to the consensus sequence 5'-GCCNNNGGC-3' and activate genes involved in a large spectrum of important biological functions including proper eye, face, body wall, limb and neural tube development. They also suppress a number of genes including MCAM MUC18, C EBP alpha and MYC. TFAP2C may be prognostic indicators for patients with breast tumors. TFAP2C gene has been tested for association to diseases (Breast Neoplasms; Carcinoma) and proposed to participate in processes (cell-cell signaling, male gonad development, regulation of transcription from RNA polymerase II promoter). Proteins are expected to have molecular functions (DNA binding, protein binding, protein dimerization activity, transcription factor activity) and to localize in various compartments (membrane, nucleus).

IL-2RG Protein, Rhesus, Recombinant (hFc) is expressed in HEK293 mammalian cells with hFc tag. The predicted molecular weight is 54.10 kDa and the accession number is Q38JL2.

Fcgr4, also known as CD16-2, is one of the receptors for Fc region of IgG which involve in immune responses. Fcgr4 mainly functions in cellular response to lipopolysaccharide, NK T cell proliferation, regulation of sensory perception of pain, wound healing etc. Three groups are included for Fc γ receptors (FcR), and they are Fc γ RI (CD64), Fc γ RII (CD32), and Fc γ RIII (CD16). Among these, CD64 possess high affinity even for monomeric IgG, while CD32 and CD16 display a relative lower affinity for IgG. Genes encodes these receptors are diverse differing by species and cell types. The aggregation of FcR having immunoreceptor tyrosine-based activation motifs (ITAMs) activates sequentially src family tyrosine kinases and syk family tyrosine kinases that connect transduced signals to common activation pathways shared with other receptors. FcR with ITAMs elicit cell activation, endocytosis, and phagocytosis. Fcgr4 belongs to Fc γ RIII (CD16) group.

Signal regulatory protein gamma (SIRP gamma, designated CD172g), also called SIRP beta 2, is a monomeric 45-47 kDa type I transmembrane protein belonging to the SIRP SHPS (CD172) family of the Ig superfamily.SIRP gamma is probable immunoglobulin-like cell surface receptor. On binding with CD47, mediates cell-cell adhesion. Engagement on T-cells by CD47 on antigen-presenting cells results in enhanced antigen-specific T-cell proliferation and costimulates T-cell activation. SIRP gamma Protein, Human, Recombinant (His & Avi) is expressed in HEK293 mammalian cells with C-His-Avi tag. The predicted molecular weight is 39.7 kDa and the accession number is Q9P1W8.

Interferon-gamma receptor beta chain (IFNgammaR2), also known as IFNGR2, belongs to the type II cytokine receptor family, whose deficiency is a cause of autosomal recessive mendelian susceptibility to mycobacterial disease (MSMD), also known as familial disseminated atypical mycobacterial infection. This accessory factor is an integral part of the IFN-gamma signal transduction pathway and is likely to interact with GAF, JAK1, and or JAK2. IFNGR2 is a component of the IFNgamma receptor complex along with the IFNgammaR alpha chain (IFNGR1) and is a new Bax suppressor. The C-terminal fragment (cytoplasmic domain) of IFNgammaR2 is expressed in human cancer cell lines of megakaryocytic cancer (DAMI), breast cancer (MDA-MD-468), and prostate cancer (PC3 cells). The Th1 cytokine IFNgamma, acting through its heterodimeric receptors, IFNgammaR1 and IFNgammaR2, in the induction proliferation of Th1 cells, might suppress the Th2 responses that may underlie atopic asthma. IFNGR2 has always been seen as a key mechanism for shielding T lymphocytes from the antiproliferative effects of the IFNgamma-signal transducer and activator of the transcription 1 (STAT1) pathway.

IL-2RG Protein, Human, Recombinant (His) is expressed in HEK293 mammalian cells with His tag. The predicted molecular weight is 29.72 kDa and the accession number is P31785-1.

IL-2RG Protein, Mouse, Recombinant(aa 1-263, hFc) is expressed in HEK293 mammalian cells with hFc tag. The predicted molecular weight is 54.68 kDa and the accession number is NP_038591.1.

Receptors for the Fc region of IgG (FcγR) are members of the Ig superfamily that function in the activation or inhibition of immune responses. Human FcγRs are divided into three classes designated FcγRI (CD64), FcγRII (CD32), and FcγRIII (CD16), which generate multiple isoforms, are recognized. The activating­ type receptor either has or associates non­covalently with an accessory subunit that has an immunoreceptor tyrosine­based activation motif (ITAM) in its cytoplasmic domain. FcγRI binds IgG with high affinity and functions during early immune responses, whereas FcγRII and RIII are low affinity receptors that recognize IgG as aggregates surrounding multivalent antigens during late immune responses. Three genes for human FcγRII (A, B, and C) and one for mouse (FcγRIIB), encoding type I transmembrane proteins with ITAM motifs (FcγRII A and C) or ITIM motifs (FcγRIIB) in their cytoplasmic domains, have been identified. Human CD32, also known as Low affinity immunoglobulin γ Fc region receptor II-a (IgG Fc receptor II-a), FcγRII A or FCGR2A Protein, is expressed on cells of both myeloid and lymphoid lineages as well as on cells of non-hematopoietic origin. Associated with an ITAM-bearing adapter subunit, FcRγ, CD32a (FcγRII A) delivers an activating signal upon ligand binding, and results in the initiation of inflammatory responses including cytolysis, phagocytosis, degranulation, and cytokine production. The responses can be modulated by signals from the co-expressed inhibitory receptors such as Fcγ RII B, and the strength of the signal is dependent on the ratio of expression of the activating and inhibitory receptors.

Signaling lymphocyte activation molecule (SLAM), is a self-ligand glycoprotein which exists not only found on the surface of activated and memory T cells, but also on the surface of activated B cells, dendritic cells, and macrophages. SLAM consists of a extracellular domain (ECD) with two Ig-like domains,transmembrane segment, and cytoplasmic domain with three immunoreceptor tyrosine switch motifs (ITSM). SLAM is thought to play an important role in adhesion between T cells and APCs and has been shown to act as a coreceptor in TCR-dependent responses. SLAM, together with CD46, is one of the two receptors for measles virus. SLAM is a cell surface receptor that, like the B cell receptor, CD40, and CD95, can transmit positive or negative signals. SLAM can associate with the SH2-containing inositol phosphatase (SHIP), the SH2-containing protein tyrosine phosphatase (SHP-2), and the adaptor protein SH2 domain protein 1A. It’s upregulated on activated B cells and CD4+ and CD8+ T cells, but downregulated on Th2 polarized cells. Also, it can Inhibits antigen receptor-mediated production of IFN-gamma, but not IL-2, in CD4- CD8- T-cells.

The Fc gamma Rs have been divided into three classes based on close relationships in their extracellular domains; these groups are designated Fc gamma RI (also known as CD64), Fc gamma RII (CD32), and Fc gamma RIII (CD16). Each group may be encoded by multiple genes and exist in different isoforms depending on species and cell type. Fc gamma RIIA CD32a (H167) Protein, Human, Recombinant (His & Avi) is expressed in HEK293 mammalian cells with C-His-Avi tag. The predicted molecular weight is 23.2 kDa and the accession number is P12318-1.

Fc gamma RIIA CD32a (R167) Protein, Human, Recombinant (His & Avi), Biotinylated is expressed in HEK293 mammalian cells with C-His-Avi tag. The predicted molecular weight is 23.2 kDa and the accession number is P12318-1.

IL15RA is a high-affinity receptor for interleukin-15. Il15ra associates as a heterotrimer with the IL-2 receptor beta and gamma subunits to initiate signal transduction. It can signal both in cis and trans where IL15R from one subset of cells presents IL15 to neighboring IL2RG-expressing cells. Il15ra is expressed in special cells including a wide variety of Tand B cells and non-lymphoid cells.IL-15 is a cytokine that regulates T cell and natural killer cell activation and proliferation. IL-15 binds to the alpha subunit of the IL-15RA with high affinity. IL-15 also binds to the beta and gamma chains of the IL-2 receptor, but not the alpha subunit of the IL2 receptor. IL-15 is structurally and functionally related to IL-2. Both cytokines share some subunits of receptors, allowing them to compete for and negatively regulate each other's activity. The number of CD8+ memory T cells is controlled by a balance between IL-15 and IL-2. Despite their many overlapping functional properties, IL-2 and IL-15 are, in fact, quite distinct players in the immune system. IL-15 is constitutively expressed by a wide variety of cell types and tissues, including monocytes, macrophages and DCs.

CD32A Protein, Human, Recombinant (167 Arg, His) is expressed in HEK293 mammalian cells with His tag. The predicted molecular weight is 22 kDa and the accession number is P12318-1.

Coagulation factor XIII B chain, also known as Fibrin-stabilizing factor B subunit, Protein-glutamine gamma-glutamyltransferase B chain, Transglutaminase B chain and F13B, is a secreted protein which contains 1 Sushi ( CCP SCR ) domains. Coagulation factor XIII is the last zymogen to become activated in the blood coagulation cascade. Plasma factor XIII is a heterotetramer composed of 2 A subunits and 2 B subunits. The A subunits have catalytic function, and the B subunits do not have enzymatic activity and may serve as a plasma carrier molecules. Platelet factor XIII is composed of just 2 A subunits, which are identical to those of plasma origin. The B chain of factor XIII is not catalytically active, but is thought to stabilize the A subunits and regulate the rate of transglutaminase formation by thrombin. Factor XIII acts as a transglutaminase to catalyze the formation of gamma-glutamyl-epsilon-lysine crosslinking between fibrin molecules, thus stabilizing the fibrin clot. Factor XIII deficiency is classified into two categories: type I deficiency, characterized by the lack of both the A and B subunits; and type II deficiency, characterized by the lack of the A subunit alone. These defects can result in a lifelong bleeding tendency, defective wound healing, and habitual abortion. Defects in F13B are the cause of factor XIII subunit B deficiency ( FA13BD ) which is an autosomal recessive disorder characterized by a life-long bleeding tendency, impaired wound healing and spontaneous abortion in affected women.