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Immunogen Sequence: GQHMVEQLLA RGYAVNVFDI QQGFDNPQVR FFLGDLCSRQ DLYPALKGVN TVFHCASPPP SSNNKELFYR VNYIGTKNVI ETCKEAGVQK LILTSSASVI F
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Protein H105e3; short chain dehydrogenase/reductase family 31E, member 1; Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating
基因别名: H105E3; NSDHL; SDR31E1; XAP104
UniProt ID: (Human) Q15738
Entrez Gene ID: (Human) 50814