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Description for Protein PCBD1

pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha
45 total interacting proteins; 8 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
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). [provided by RefSeq] (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
4.2.1.96
KEGG - Orthology:
K01724
KEGG - Pathway(s):
None Available
Nomenclature / Alternative Names:
Pterin-4 alpha-carbinolamine dehydratase isoform 1; 6-pyruvoyl-tetrahydropterin synthase; Dimerizing cofactor for HNF1; PHS; 4-alpha hydroxy tetrahydropterin dehydratase; Phenylalanine hydroxylase stimulating protein; Pterin carbinolamine dehydratase; PCD; PCBD; Dimerization cofactor of hepatic nuclear factor 1 alpha; DCOH; EC 4.2.1.96
Approved Symbol:
PCBD1
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 1
Human (de-) phosphorylation sites: 1; No platelet phosphorylation sites
Phosphorylation Targets:
Total phosphorylation targets: 0
Human phosphorylation targets: 0;Predicted platelet targets: 0
Protein Characteristics:
Isoform-specific Information
Icon DrugsAssociated Drugs (DrugBank Accession):

  • 7,8-dihydrobiopterin(db)

    Associated Genetic Diseases:

  • Hyperphenylalaninemia with primapterinuria(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 00523 Entrez Gene ID: 5092 OMIM ID: 126090 Swissprot Accession: P61457;