7-dehydrocholesterol reductase


DHCR7 (may also be known as: None)




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]


dhcr-7 Caenorhabditis elegans
LBR Drosophila melanogaster
dhcr7 Danio rerio
Dhcr7 Mus musculus
Dhcr7 Rattus norvegicus

Links to external resources

Changes associated with this gene

Changes associated with the orthologs of this gene

Identifier Name Type Tissues Organism Gene Data Actions
DAA1512 7-dehydrocholesterol reductase Molecular liver Mouse Dhcr7 19.0% Increase Gene Expression Level

GO Terms

GO IDGO TermGO Category
GO:0001568 blood vessel development biological_process
GO:0006695 cholesterol biosynthetic process biological_process
GO:0009791 post-embryonic development biological_process
GO:0016126 sterol biosynthetic process biological_process
GO:0030154 cell differentiation biological_process
GO:0030324 lung development biological_process
GO:0035264 multicellular organism growth biological_process
GO:0042127 regulation of cell proliferation biological_process
GO:0044281 small molecule metabolic process biological_process
GO:0045540 regulation of cholesterol biosynthetic process biological_process
GO:0055114 oxidation-reduction process biological_process
GO:0005640 nuclear outer membrane cellular_component
GO:0005783 endoplasmic reticulum cellular_component
GO:0005789 endoplasmic reticulum membrane cellular_component
GO:0005792 microsome cellular_component
GO:0016020 membrane cellular_component
GO:0016021 integral to membrane cellular_component
GO:0016491 oxidoreductase activity molecular_function
GO:0016628 oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor molecular_function
GO:0047598 7-dehydrocholesterol reductase activity molecular_function