| Gene Symbol | SC5D |
| Entrez Gene ID | 6309 |
| Full Name | sterol-C5-desaturase |
| Synonyms | ERG3,S5DES,SC5DL |
| General protein information |
|
| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| 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]. |
| Disorder MIM: | |
| Disorder Html: | Lathosterolosis, 607330 (3) |








































User Manual