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PCBD1 encodes pterin-4 alpha-carbinolamine dehydratase, an enzyme involved in phenylalanine hydroxylation.
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DCoH acts as a cofactor for HNF1 that stabilizes the dimeric HNF1 complex.
HNF1alpha (show HNF1A Proteins) binding kinetics may distinguish regulation by DCoH2 (show PCBD2 Proteins), under thermodynamic control, from regulation by DCoH, under kinetic control
We provide the first genetic evidence that PCBD1 mutations can cause early-onset nonautoimmune diabetes with features similar to dominantly inherited HNF1A (show HNF1A Proteins)-diabetes.
Coactivator of the HNFB1 (HNF1 homeobox B (show HNF1B Proteins))-mediated transcription is necessary for fine tuning ATPase Na+/K+ transporting gamma 1 polypeptide (FXYD2 (show FXYD2 Proteins)) transcription in the distal convoluted tubule
Pcbd1 is a moonlighting protein that has dehydratase activity in addition to functioning as a cofactor which regulates HNF1alpha (show HNF1A Proteins).
variants of the hepatocyte nuclear factor-1beta (HNF-1beta / TCF2 (show HNF1B Proteins)) and the dimerization cofactor of HNF-1 (DcoH/PCBD) genes in relation to type 2 diabetes mellitus and beta-cell function
Data reveal DCoH/HNF-1 alpha (show HNF1A Proteins) expression and transcriptional activity in human epidermal melanocytes in vitro and in situ and identified tyrosinase (show TYR Proteins), the key enzyme for pigmentation, as a new transcriptional target.
Albumin (show ALB Proteins) colocalized together with its transcription factor PCD/DCoH/HNF-1alpha (show HNF1A Proteins) in suprabasal keratinocytes in human full-thickness skin sections and in keratinocytes cultured in serum-free medium.
Properties of dehydratase/DCoHalpha are consistent with hypothesis that activity of this isozyme could account for relatively mild symptoms reported for patients with a defect in dehydratase/DCoH
This gene encodes pterin-4 alpha-carbinolamine dehydratase, an enzyme involved in phenylalanine hydroxylation. A deficiency of this enzyme leads to hyperphenylalaninemia. The enzyme regulates the homodimerization of the transcription factor hepatocyte nuclear factor 1 (HNF1).
, pterin-4-alpha-carbinolamine dehydratase
, 6-pyruvoyl-tetrahydropterin synthase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1)
, 4-alpha-hydroxy-tetrahydropterin dehydratase
, dimerization cofactor of HNF1
, dimerization cofactor of hepatocyte nuclear factor 1-alpha
, dimerization cofactor of hepatocyte nuclear factor-1-alpha
, phenylalanine hydroxylase-stimulating protein
, pterin carbinolamine dehydratase
, 6-pyruvoyl-tetrahydropterin synthase
, pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1)
, dimerizing cofactor for HNF1
, pterin 4 alpha carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 1