Gene Symbol | NSDHL |
Entrez Gene ID | 50814 |
Full Name | NAD(P) dependent steroid dehydrogenase-like |
Synonyms | H105E3,SDR31E1,XAP104 |
General protein information |
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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) |