Immunogen sequence: LPYAMKPIDY YTETKILQER AVLGANDPEK NFLTTAIRPH GIFGPRDPQL VPILIEAARN GKMKFVIGNG KNLVDFTFVE NVVHGHILAA EQLSRDSTLG GKAFHITNDE PIPFWTFLSR I
Highest antigen sequence identity to the following orthologs: Mouse - 91%, Rat - 92%.
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; decarboxylating; H105E3; member 1; NAD(P)-dependent steroid dehydrogenase-like protein; Protein H105e3; SDR31E1; short chain dehydrogenase/reductase family 31E; short chain dehydrogenase/reductase family 31E, member 1; sterol-4-alpha-carboxylate 3-dehydrogenase; Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating; striated; XAP104
Gene Aliases: AI747449; Bpa; H105E3; NSDHL; SDR31E1; Str; XAP104