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]
Function:
SC5DL catalyzes the conversion of lathosterol into 7 dehydrocholesterol. Mutations in this gene have been associated with lathosterolosis.
Subcellular Location:
Endoplasmic reticulum membrane; Multipass membrane protein
SWISS:
O75845
Gene ID:
6309
Database links:
Entrez Gene: 6309 Human
Omim: 602286 Human
SwissProt: O75845 Human
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