PCBD1

Pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1)
File:PBB Protein PCBD1 image.jpg PDB rendering based on 1dch.
Available structures PDB Ortholog search: Template:Homologene2PDBe PDBe, Template:Homologene2uniprot RCSB List of PDB id codes 1dch​, 1dco​, 1dcp​, 1f93​
Identifiers
Symbols	PCBD1 ; PCD; PHS; DCOH; PCBD
External IDs	Template:OMIM5 Template:MGI HomoloGene: 57028
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
File:PBB GE PCBD1 203557 s at tn.png
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1), also known as PCBD1, is a human gene.

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).

Further reading

• Hansen LP, Crabtree GR (1993). "Regulation of the HNF-1 homeodomain proteins by DCoH". Curr. Opin. Genet. Dev. 3 (2): 246–53. PMID 8504250.
• Suck D, Ficner R (1996). "Structure and function of PCD/DCoH, an enzyme with regulatory properties". FEBS Lett. 389 (1): 35–9. PMID 8682201.
• Thöny B, Auerbach G, Blau N (2000). "Tetrahydrobiopterin biosynthesis, regeneration and functions". Biochem. J. 347 Pt 1: 1–16. PMID 10727395.CS1 maint: Multiple names: authors list (link)
• Mendel DB, Khavari PA, Conley PB; et al. (1992). "Characterization of a cofactor that regulates dimerization of a mammalian homeodomain protein". Science. 254 (5039): 1762–7. PMID 1763325.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Thöny B, Neuheiser F, Blau N, Heizmann CW (1995). "Characterization of the human PCBD gene encoding the bifunctional protein pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor for the transcription factor HNF-1 alpha". Biochem. Biophys. Res. Commun. 210 (3): 966–73. doi:10.1006/bbrc.1995.1751. PMID 7763270.CS1 maint: Multiple names: authors list (link)
• Thöny B, Heizmann CW, Mattei MG (1994). "Chromosomal location of two human genes encoding tetrahydrobiopterin-metabolizing enzymes: 6-pyruvoyl-tetrahydropterin synthase maps to 11q22.3-q23.3, and pterin-4 alpha-carbinolamine dehydratase maps to 10q22". Genomics. 19 (2): 365–8. doi:10.1006/geno.1994.1071. PMID 8188266.CS1 maint: Multiple names: authors list (link)
• Citron BA, Kaufman S, Milstien S; et al. (1993). "Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism". Am. J. Hum. Genet. 53 (3): 768–74. PMID 8352282.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Hauer CR, Rebrin I, Thöny B; et al. (1993). "Phenylalanine hydroxylase-stimulating protein/pterin-4 alpha-carbinolamine dehydratase from rat and human liver. Purification, characterization, and complete amino acid sequence". J. Biol. Chem. 268 (7): 4828–31. PMID 8444860.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Milatovich A, Mendel DB, Crabtree GR, Francke U (1993). "Genes for the dimerization cofactor of hepatocyte nuclear factor-1 alpha (DCOH) are on human and murine chromosomes 10". Genomics. 16 (1): 292–5. doi:10.1006/geno.1993.1182. PMID 8486378.CS1 maint: Multiple names: authors list (link)
• Johnen G, Kowlessur D, Citron BA, Kaufman S (1996). "Characterization of the wild-type form of 4a-carbinolamine dehydratase and two naturally occurring mutants associated with hyperphenylalaninemia". Proc. Natl. Acad. Sci. U.S.A. 92 (26): 12384–8. PMID 8618906.CS1 maint: Multiple names: authors list (link)
• Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. PMID 8889548.CS1 maint: Multiple names: authors list (link)
• Sourdive DJ, Transy C, Garbay S, Yaniv M (1997). "The bifunctional DCOH protein binds to HNF1 independently of its 4-alpha-carbinolamine dehydratase activity". Nucleic Acids Res. 25 (8): 1476–84. PMID 9092652.CS1 maint: Multiple names: authors list (link)
• Johnen G, Kaufman S (1998). "Studies on the enzymatic and transcriptional activity of the dimerization cofactor for hepatocyte nuclear factor 1". Proc. Natl. Acad. Sci. U.S.A. 94 (25): 13469–74. PMID 9391049.
• Thöny B, Neuheiser F, Kierat L; et al. (1998). "Hyperphenylalaninemia with high levels of 7-biopterin is associated with mutations in the PCBD gene encoding the bifunctional protein pterin-4a-carbinolamine dehydratase and transcriptional coactivator (DCoH)". Am. J. Hum. Genet. 62 (6): 1302–11. PMID 9585615.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Thöny B, Neuheiser F, Kierat L; et al. (1998). "Mutations in the pterin-4alpha-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia". Hum. Genet. 103 (2): 162–7. PMID 9760199.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Lei XD, Kaufman S (1999). "Characterization of expression of the gene for human pterin carbinolamine dehydratase/dimerization cofactor of HNF1". DNA Cell Biol. 18 (3): 243–52. doi:10.1089/104454999315466. PMID 10098606.
• Waters PJ, Scriver CR, Parniak MA (2001). "Homomeric and heteromeric interactions between wild-type and mutant phenylalanine hydroxylase subunits: evaluation of two-hybrid approaches for functional analysis of mutations causing hyperphenylalaninemia". Mol. Genet. Metab. 73 (3): 230–8. doi:10.1006/mgme.2001.3198. PMID 11461190.CS1 maint: Multiple names: authors list (link)