Gene Symbol: Pcbd1
Description: pterin 4 alpha carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 1
Alias: Dcoh, Pcbd, Pcd, Phs, pterin-4-alpha-carbinolamine dehydratase, 4-alpha-hydroxy-tetrahydropterin dehydratase, 6-pyruvoyl-tetrahydropterin synthase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1), dimerization cofactor of HNF1, phenylalanine hydroxylase-stimulating protein, pterin carbinolamine dehydratase
Mendel D, Khavari P, Conley P, Graves M, Hansen L, Admon A, et al
. Characterization of a cofactor that regulates dimerization of a mammalian homeodomain protein. Science. 1991;254:1762-7 pubmed
..A dimerization cofactor of HNF-1 alpha (DCoH) was identified that displayed a restricted tissue distribution and did not bind to DNA, but, rather, selectively ..
Zobeley E, Sufalko D, Adkins S, Burmeister M. Fine genetic and comparative mapping of the deafness mutation Ames waltzer on mouse chromosome 10. Genomics. 1998;50:260-6 pubmed
..In addition, nine different genes (Ank3, Bcr, Gnaz, Tfam, Mif, Mmp11, Dcoh, Pyp, and Gstt2) were mapped and eliminated genetically as candidate genes for av...
Rose R, Pullen K, Bayle J, Crabtree G, Alber T. Biochemical and structural basis for partially redundant enzymatic and transcriptional functions of DCoH and DCoH2. Biochemistry. 2004;43:7345-55 pubmed
..Transcription by HNF1alpha is stimulated by the bifunctional coactivator DCoH (dimerization cofactor of HNF1). Strikingly, an HNF1alpha deletion in mice causes more severe phenotypes than a DCoH deletion...
Simaite D, Kofent J, Gong M, Ruschendorf F, Jia S, Arn P, et al
. Recessive mutations in PCBD1 cause a new type of early-onset diabetes. Diabetes. 2014;63:3557-64 pubmed publisher
..to study a consanguineous family with early-onset antibody-negative diabetes and identified a novel deletion in PCBD1 (pterin-4 ?-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 ?), a gene that was ..
Milatovich A, Mendel D, Crabtree G, Francke U. Genes for the dimerization cofactor of hepatocyte nuclear factor-1 alpha (DCOH) are on human and murine chromosomes 10. Genomics. 1993;16:292-5 pubmed
..Recently, a dimerization cofactor of hepatocyte nuclear factor-1 alpha, called DCOH, has been identified...
Bayle J, Randazzo F, Johnen G, Kaufman S, Nagy A, Rossant J, et al
. Hyperphenylalaninemia and impaired glucose tolerance in mice lacking the bifunctional DCoH gene. J Biol Chem. 2002;277:28884-91 pubmed
The bifunctional protein DCoH (Dimerizing Cofactor for HNF1) acts as an enzyme in intermediary metabolism and as a binding partner of the HNF1 family of transcriptional activators...