The protein encoded by this gene is localized in the endoplasmic reticulum and is involved in cholesterol biosynthesis. Mutations in this gene are associated with CHILD syndrome, which is a X-linked dominant disorder of lipid metabolism with disturbed cholesterol biosynthesis, and typically lethal in males. Alternatively spliced transcript variants with differing 5' UTR have been found for this gene. [provided by RefSeq, Jul 2008]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| NSDHL-20-RE | 20 (40 μL) | 200 μL |  |
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| NSDHL-20-OR | 20 (40 μL) | 200 μL |  |
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| NSDHL-20-GO | 20 (40 μL) | 200 μL |  |
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| NSDHL-20-GR | 20 (40 μL) | 200 μL |  |
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| NSDHL-20-AQ | 20 (40 μL) | 200 μL |  |
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The protein encoded by this gene is localized in the endoplasmic reticulum and is involved in cholesterol biosynthesis. Mutations in this gene are associated with CHILD syndrome, which is a X-linked dominant disorder of lipid metabolism with disturbed cholesterol biosynthesis, and typically lethal in males. Alternatively spliced transcript variants with differing 5' UTR have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Symbol : NSDHL
Gene Name : NAD(P) dependent steroid dehydrogenase-like
Chromosome : CHR X: 152,830,966-152,869,362
Locus : Xq28
Alt. Genes : ZNF263
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