SC5D, Official Symbol SC5Dprovided by HGNC Official Full Name sterol-C5-desaturaseprovided by HGNC Primary source HGNC:HGNC:10547 See related Ensembl:ENSG00000109929 MIM:602286; AllianceGenome:HGNC:10547 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ERG3; S5DES; SC5DL Summary 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] Expression Ubiquitous expression in liver (RPKM 29.7), prostate (RPKM 24.2) and 23 other tissues See more Orthologs mouse all