Database of mammalian genes
Home

Home Search Browse RAGs User guide FAQs Links Questions Contribute

Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for DHCR7 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID1717
Official gene symbolDHCR7
Full name7-dehydrocholesterol reductase
Aliases,SLOS,
Gene summaryThis 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.
LocationChromosome: 11   Locus: 11q13.2-q13.5
Gene position71159477 - 71145457  Map Viewer
Gene orientationminus
Gene size14021 bp
Gene sequence
OMIM ID602858