Sterol C5 Desaturase Like Protein (SC5DL)

SC5DL 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.DNA sequencing revealed that the open reading frame of the gene predicts a 236-amino acid protein. Northern blot analysis detected a 2.4-kb transcript in all tissues examined. In addition, an 8.0-kb transcript was seen in almost all tissues.The deduced liver protein contains 299 amino acids and is predicted to be an integral membrane protein with 4 to 5 membrane-spanning regions. It has 10 evolutionarily conserved histidines that may coordinate a nonheme iron within the catalytic center. SC4DL shares 83.6% amino acid identity with mouse Sc4dl.