Gene Symbol | SC5D |
Entrez Gene ID | 6309 |
Full Name | sterol-C5-desaturase |
Synonyms | ERG3,S5DES,SC5DL |
General protein information |
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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) |