sterol-C5-desaturase

Symbol

SC5D (may also be known as: None)

Organism

Human

Description

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]

Orthologs

SymbolSpecies
sc5d Danio rerio
Sc5d Mus musculus
Sc5d Rattus norvegicus
ERG3 Saccharomyces cerevisiae
erg32 Schizosaccharomyces pombe

Links to external resources

Changes associated with this gene