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SC5DL

Official Full Name
sterol-C5-desaturase
Organism
Homo sapiens
GeneID
6309
Background
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]
Synonyms
SC5D; ERG3; S5DES; SC5DL;

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