Pterin-4-Alpha-Carbinolamine Dehydratase (PCBD1) Human Recombinant Protein

This gene encodes a member of the pterin-4-alpha-carbinolamine dehydratase family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. The encoded protein functions as both a dehydratase involved in tetrahydrobiopterin biosynthesis, and as a cofactor for HNF1A-dependent transcription. A deficiency of this enzyme leads to hyperphenylalaninemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

PCBD1: Involved in tetrahydrobiopterin biosynthesis. Seems to both prevent the formation of 7-pterins and accelerate the formation of quinonoid-BH2. Coactivator for HNF1A-dependent transcription. Regulates the dimerization of homeodomain protein HNF1A and enhances its transcriptional activity. Defects in PCBD1 are the cause of BH4-deficient hyperphenylalaninemia type D (HPABH4D); also known as hyperphenylalaninemia with primapterinuria. HPABH4D is characterized by the excretion of 7-substituted pterins in the urine of affected patients. Belongs to the pterin-4-alpha-carbinolamine dehydratase family.

Protein type: Transcription, coactivator/corepressor; Oxidoreductase; Lyase; EC 4.2.1.96

Chromosomal Location of Human Ortholog: 10q22

Cellular Component: nucleoplasm; cytoplasm; cytosol

Molecular Function: identical protein binding; protein binding; 4-alpha-hydroxytetrahydrobiopterin dehydratase activity; transcription coactivator activity; phenylalanine 4-monooxygenase activity

Biological Process: tetrahydrobiopterin biosynthetic process; L-phenylalanine catabolic process; transcription, DNA-dependent; protein heterooligomerization; regulation of protein homodimerization activity; positive regulation of transcription, DNA-dependent; protein homotetramerization

Disease: Hyperphenylalaninemia, Bh4-deficient, D