DHCR7 Polyclonal Antibody

Reddot Biotech

DHCR7 Polyclonal Antibody

5

Western Blot

Research Use Only

1 mg/ml

Unconjugated

DHCR7

7-dehydrocholesterol reductase

7-dehydrocholesterol reductase; 7-DHC reductase; delta-7-dehydrocholesterol reductase; delta7-sterol reductase; putative sterol reductase SR-2; SLOS; sterol delta-7-reductase; sterol reductase SR-2

Rabbit

IgG

This gene encodes an enzyme that removes the C(7-8) double bond in the B ring of sterols and catalyzes the conversion of 7-dehydrocholesterol to cholesterol. This gene is ubiquitously expressed and its transmembrane protein localizes to the endoplasmic reticulum membrane and nuclear outer membrane. Mutations in this gene cause Smith-Lemli-Opitz syndrome (SLOS); a syndrome that is metabolically characterized by reduced serum cholesterol levels and elevated serum 7-dehydrocholesterol levels and phenotypically characterized by mental retardation, facial dysmorphism, syndactyly of second and third toes, and holoprosencephaly in severe cases to minimal physical abnormalities and near-normal intelligence in mild cases. Alternative splicing results in multiple transcript variants that encode the same protein.

Human

-20°C

12352203