Entrez gene ID | | 6309 |
Official gene symbol | | SC5D |
Full name | | sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, S. cerevisiae)-like |
Aliases | | ,ERG3,S5DES,SC5DL, |
Gene 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] |
Location | | Chromosome: 11 Locus: 11q23.3 |
Gene position | | 121163388 - 121184119 Map Viewer |
Gene orientation | | plus |
Gene size | | 20732 bp |
Gene sequence |
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OMIM ID | | 602286 |
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