Aliases for SC5D Gene
External Ids for SC5D Gene
Previous HGNC Symbols for SC5D Gene
Previous GeneCards Identifiers 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 and Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A. Among its related pathways are cholesterol biosynthesis III (via desmosterol) and Terpenoid backbone biosynthesis. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and C-5 sterol desaturase activity. An important paralog of this gene is FAXDC2.
UniProtKB/Swiss-Prot Summary for SC5D Gene
Catalyzes a dehydrogenation to introduce C5-6 double bond into lathosterol.