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SC5D / ERG3 is 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.
Gene Name: | sterol-C5-desaturase |
Synonyms: | SC5D, C-5 sterol desaturase, Delta(7)-sterol 5-desaturase, ERG3, Lathosterol 5-desaturase, Lathosterol dehydrogenase, Lathosterol oxidase, SC5DL, Sterol-C5-desaturase, S5DES |
Target Sequences: | NM_006918 NP_008849.2 O75845 |
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