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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]
GO:0016020 [membrane] GO:0016021 [integral component of membrane] GO:0016628 [oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor] GO:0055114 [oxidation-reduction process]
Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 3TM proteins predicted by MDM Protein evidence (Ezkurdia et al 2014)
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GO:0016020 [membrane] GO:0016021 [integral component of membrane] GO:0016628 [oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor] GO:0055114 [oxidation-reduction process]
