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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| SC5D-20-RE | 20 (40 μL) | 200 μL |  |
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| SC5D-20-OR | 20 (40 μL) | 200 μL |  |
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| SC5D-20-GO | 20 (40 μL) | 200 μL |  |
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| SC5D-20-GR | 20 (40 μL) | 200 μL |  |
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| SC5D-20-AQ | 20 (40 μL) | 200 μL |  |
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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]
Gene Symbol : SC5D
Gene Name : Sterol-C5-desaturase
Chromosome : CHR 11: 121,292,678-121,313,409
Locus : 11q23.3-q24.1
Alt. Genes : CTDSP2
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