Products

Western Blot (Tissue lysate)

Western Blot (Tissue lysate)

Western Blot (Cell lysate)

Entrez GeneID

GeneBank Accession#

Protein Accession#

Gene Name

DHCR7

Gene Alias

SLOS

Gene Description

7-dehydrocholesterol reductase

Omim ID

Gene Ontology

Gene Summary

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

Other Designations

delta-7-dehydrocholesterol reductase