基因名：
Nsdhl
产品别名：
AI747449； Bpa； H105E3； Str； XAP104； Nsdhl； NAD(P) dependent steroid dehydrogenase-like； NAD(P) dependent steroid dehydrogenase-like； sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating； NAD(P)-dependent steroid dehydrogenase-like protein； bare patches； striated； 类固醇脱氢酶样蛋白NSDHL；
背景信息：
NSDHL 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.
