Species Human Entrez 6309 | Human Mouse Ensembl ENSG00000109929 | |
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Aliases SC5D, ERG3, S5DES, SC5DL, Sterol-C5-desaturase-like, sterol-C5-desaturase External IDs MGI: 1353611 HomoloGene: 5044 GeneCards: SC5D | ||
Lathosterol oxidase is an enzyme that in humans is encoded by the SC5DL gene.
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.
References
Sterol-C5-desaturase-like Wikipedia(Text) CC BY-SA