Immunogen sequence: MEPAVSEPMR DQVARTHLTE DTPKVNADIE KVNQNQAKRC TVIGGSGFLG QHMVEQLLAR GYAVNVFDIQ QGFDNPQVRF FLGDLCSRQD LYPALKGVNT VFHCASPPPS SNNKELFYRV NYIGT
Highest antigen sequence identity to the following orthologs: Mouse - 72%, Rat - 68%.
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: decarboxylating; H105E3; member 1; 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; XAP104
Gene Aliases: H105E3; NSDHL; SDR31E1; XAP104
UniProt ID: (Human) Q15738
Entrez Gene ID: (Human) 50814