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.
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Protein Aliases: bare patches; NAD(P)-dependent steroid dehydrogenase-like protein; Protein H105e3; short chain dehydrogenase/reductase family 31E, member 1; Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating; striated
Gene Aliases: AI747449; Bpa; H105E3; NSDHL; SDR31E1; Str; XAP104