| Entrez Gene ID | 6309 |
|---|---|
| Official Gene Symbol | SC5D (GeneCards) |
| Full name | sterol-C5-desaturase |
| Location | 11q23.3-q24.1 |
| Other ids | Vega : OTTHUMG00000166068 MIM : 602286 HGNC : HGNC:10547 Ensembl : ENSG00000109929 |
| Other names | 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] |