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FIGURE: 1 / 3
Sequence of this protein is as follows: MEPAVSEPMR DQVARTHLTE DTPKVNADIE KVNQNQAKRC TVIGGSGFLG QHMVEQLLAR GYAVNVFDIQ QGFDNPQVRF FLGDLCSRQD LYPALKGVNT VFHCASPPPS SNNKELFYRV NYIGTKNVIE TCKEAGVQKL ILTSSASVIF EGVDIKNGTE DLPYAMKPID YYTETKILQE RAVLGANDPE KNFLTTAIRP HGIFGPRDPQ LVPILIEAAR NGKMKFVIGN GKNLVDFTFV ENVVHGHILA AEQLSRDSTL GGKAFHITND EPIPFWTFLS RILTGLNYEA PKYHIPYWVA YYLALLLSLL VMVISPVIQL QPTFTPMRVA LAGTFHYYSC ERAKKAMGYQ PLVTMDDAME RTVQSFRHLR RVK
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
UniProt ID: (Human) Q15738, (Mouse) Q9R1J0
Entrez Gene ID: (Human) 50814, (Mouse) 18194
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