Aliases for SC5D Gene
External Ids for SC5D Gene
Previous Symbols for SC5D Gene
This gene encodes an enzyme of cholesterol biosynthesis. The encoded protein catalyzes the conversion of lathosterol into 7-dehydrocholesterol. Mutations in this gene have been associated with lathosterolosis. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]
GeneCards Summary for SC5D Gene
SC5D (Sterol-C5-Desaturase) is a Protein Coding gene. Diseases associated with SC5D include lathosterolosis. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include iron ion binding and lathosterol oxidase activity.
UniProtKB/Swiss-Prot for SC5D Gene
Catalyzes a dehydrogenation to introduce C5-6 double bond into lathosterol