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VLDLR cerebellar hypoplasia (VLDLR-CH) is characterized by non-progressive congenital ataxia that is predominantly truncal and results in delayed ambulation, moderate-to-profound intellectual disability, dysarthria, strabismus, and seizures.VLDLR-CH is inherited in an autosomal recessive manner. Carrier testing for at-risk relatives, prenatal testing for a pregnancy at increased risk and preimplantation genetic testing are possible when the pathogenic variants in a family are known.
Pack Size | Price | Availability | Quantity |
---|---|---|---|
100 μg | $302 | In Stock | |
500 μg | $1,210 | 7-10 days | |
1 mg | $2,010 | 7-10 days |
Biological Activity | Mouse VLDLR, His Tag immobilized on CM5 Chip can bind Mouse PCSK9, His Tag with an affinity constant of 0.28 nM as determined in SPR assay. |
Description | VLDLR cerebellar hypoplasia (VLDLR-CH) is characterized by non-progressive congenital ataxia that is predominantly truncal and results in delayed ambulation, moderate-to-profound intellectual disability, dysarthria, strabismus, and seizures.VLDLR-CH is inherited in an autosomal recessive manner. Carrier testing for at-risk relatives, prenatal testing for a pregnancy at increased risk and preimplantation genetic testing are possible when the pathogenic variants in a family are known. |
Species | Mouse |
Expression System | HEK293 Cells |
Tag | C-His |
Accession Number | P98156 |
Synonyms | VLDLRCH,VLDL-R,VLDLR,RP11-320E16.1,FLJ35024,CHRMQ1 |
Construction | Gly28-Ser797 |
Protein Purity | > 95% as determined by Tris-Bis PAGE |
Molecular Weight | 86.1 kDa (predicted). Due to glycosylation, the protein migrates to 110-130 kDa based on Tris-Bis PAGE result. |
Endotoxin | < 1 EU/μg by the LAL method. |
Formulation | Lyophilized from a solution filtered through a 0.22 μm filter, containing PBS (pH 7.4). Typically, 8% trehalose is incorporated as a protective agent before lyophilization. |
Reconstitution | Reconstitute the lyophilized protein in distilled water. The product concentration should not be less than 100 μg/ml. Before opening, centrifuge the tube to collect powder at the bottom. After adding the reconstitution buffer, avoid vortexing or pipetting for mixing. |
Stability & Storage | It is recommended to store recombinant proteins at -20°C to -80°C for future use. Lyophilized powders can be stably stored for over 12 months, while liquid products can be stored for 6-12 months at -80°C. For reconstituted protein solutions, the solution can be stored at -20°C to -80°C for at least 3 months. Please avoid multiple freeze-thaw cycles and store products in aliquots. |
Shipping | In general, Lyophilized powders are shipping with blue ice. |
Research Background | VLDLR cerebellar hypoplasia (VLDLR-CH) is characterized by non-progressive congenital ataxia that is predominantly truncal and results in delayed ambulation, moderate-to-profound intellectual disability, dysarthria, strabismus, and seizures.VLDLR-CH is inherited in an autosomal recessive manner. Carrier testing for at-risk relatives, prenatal testing for a pregnancy at increased risk and preimplantation genetic testing are possible when the pathogenic variants in a family are known. |
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