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nsdhl

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Official Full Name
NAD(P) dependent steroid dehydrogenase-like
Background
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.
Synonyms
NSDHL; NAD(P) dependent steroid dehydrogenase-like; sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating; H105e3; SDR31E1; short chain dehydrogenase/reductase family 31E; member 1; XAP104; H105e3 protein; NAD(P) dependent steroid dehydrogenase like; Protein H105e3; Short chain dehydrogenase/reductase family 31E member 1; Sterol 4 alpha carboxylate 3 dehydrogenase decarboxylating; OTTHUMP00000025902; OTTHUMP00000025903; short chain dehydrogenase/reductase family 31E, member 1; H105E3, XAP104, SDR31E1, NSDHL; zgc:112474