Sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, S. cerevisiae)-like
Gene Summary
SC5DL catalyzes a dehydrogenation to introduce C5-6 double bond into lathosterol.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.