| Gene Symbol | NSDHL |
| Entrez Gene ID | 50814 |
| Full Name | NAD(P) dependent steroid dehydrogenase-like |
| Synonyms | H105E3,SDR31E1,XAP104 |
| General protein information |
|
| Gene Type | protein-coding |
| Organism | Homo sapiens(Human) |
| Genome | |
| Summary | 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]. |
| Disorder MIM: | |
| Disorder Html: | CHILD syndrome, 308050 (3); CK syndrome, 300831 (3) |

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