GENETIC ENCYCLOPEDIA
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gene: SC5D

id6309
symbolSC5D
organismHomo sapiens
full namesterol-C5-desaturase
summaryThis 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]
variant-disease

NM_006918.5(SC5D):c.137A>C (p.Tyr46Ser) AND Lathosterolosis

NM_006918.5(SC5D):c.*3665C>T AND Lathosterolosis

NM_006918.5(SC5D):c.*5224A>G AND Lathosterolosis

NM_006918.5(SC5D):c.*1195A>G AND Lathosterolosis

NM_006918.5(SC5D):c.*3627A>G AND Lathosterolosis

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