Entrez gene ID | | 1717 |
Official gene symbol | | DHCR7 |
Full name | | 7-dehydrocholesterol reductase |
Aliases | | ,SLOS, |
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. |
Location | | Chromosome: 11 Locus: 11q13.2-q13.5 |
Gene position | | 71159477 - 71145457 Map Viewer |
Gene orientation | | minus |
Gene size | | 14021 bp |
Gene sequence |
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OMIM ID | | 602858 |
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