VLDLR, His, Human

VLDLR, His, Human

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.
Z05958
¥63,425.00

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Product Introduction
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.

Background
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.