This Antibody was verified by Relative expression to ensure that the antibody binds to the antigen stated. View Details
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
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