Aliases for DHCR7 Gene
External Ids for DHCR7 Gene
Previous HGNC Symbols for DHCR7 Gene
Previous GeneCards Identifiers for DHCR7 Gene
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.[provided by RefSeq, Aug 2009]
GeneCards Summary for DHCR7 Gene
DHCR7 (7-Dehydrocholesterol Reductase) is a Protein Coding gene. Diseases associated with DHCR7 include smith-lemli-opitz syndrome and sost-related sclerosing bone dysplasia. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include 7-dehydrocholesterol reductase activity. An important paralog of this gene is TM7SF2.
UniProtKB/Swiss-Prot for DHCR7 Gene
Production of cholesterol by reduction of C7-C8 double bond of 7-dehydrocholesterol (7-DHC)
Delta7-Dehydrocholesterol reductase (DHCR) is a membrane-bound enzyme that catalyzes the final step of cholesterol biosynthesis (the reduction of the C7-8 double bond in 7-dehydrocholesterol to form cholesterol), using NADPH as a cofactor. Cholesterol is a vital component in biological membranes and in myelin and is necessary for the synthesis of steroid hormones and bile acids. DHCR is ubiquitously expressed and its highest concentrations are found in the liver and brain. Autosomal recessive mutations in the DHCR7 gene have been linked to Smith-Lemli-Opitz syndrome, an inherited disease causing multiple congenital abnormalities linked to defects in cholesterol biosynthesis. The human gene encoding this enzyme is localized to 11q12-13.