Species |
Human |
Protein Construction |
VLDLR (Gly28-Ser797)_x000D_ Accession # P98155-1 |
His |
N-term |
C-term |
|
Purity |
> 95% as determined by BisTris PAGE > 95% as determined by HPLC |
Endotoxin Level |
Less than 1EU per μg by the LAL method. |
Expression System |
HEK293 |
Theoretical Molecular Weight |
85.9 kDa |
Apparent Molecular Weight |
Due to glycosylation, the protein migrates to 115-125 kDa based on Bis-Tris PAGE result. |
Formulation |
Lyophilized from 0.22μm filtered solution in PBS (pH 7.4). |
Reconstitution |
Centrifuge the tube before opening. Reconstituting to a concentration more than 100 μg/ml is recommended. Dissolve the lyophilized protein in distilled water. |
Storage & Stability |
Upon receiving, the product remains stable up to 6 months at -20 °C or below. Upon reconstitution, the product should be stable for 3 months at -80 °C. Avoid repeated freeze-thaw cycles. |
Target 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. |
Synonyms |
VLDL-R; VLDLR; RP11-320E16.1; CHRMQ1; FLJ35024; VLDLRCH |
For research use only. Not intended for human or animal clinical trials, therapeutic or diagnostic use.