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Proteintech
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Immunogen sequence: MEPAVSEPM RDQVARTHLT EDTPKVNADI EKVNQNQAKR CTVIGGSGFL GQHMVEQLLA RGYAVNVFDI QQGFDNPQVR FFLGDLCSRQ DLYPALKGVN TVFHCASPPP SSNNKELFYR VNYIGTKNVI ETCKEAGVQK LILTSSASVI FEGVDIKNGT EDLPYAMKPI DYYTETKILQ ERAVLGANDP EKNFLTTAIR PHGIFGPRDP QLVPILIEAA RNGKMKFVIG NGKNLVDFTF VENVVHGHIL AAEQLSRDST LGGKAFHITN DEPIPFWTFL SRILTGLNYE APKYHIPYWV AYYL (1-303 aa encoded by BC000245)
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: 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
基因别名: AI747449; Bpa; H105E3; NSDHL; SDR31E1; Str; XAP104
UniProt ID: (Human) Q15738, (Mouse) Q9R1J0, (Rat) Q5PPL3
Entrez Gene ID: (Human) 50814, (Mouse) 18194, (Rat) 309262