Protein Name pterin-4 alpha-carbinolamine dehydratase 1
Organism Homo sapiens
Gene ID 5092
Gene Symbol

PCBD1

UniProt P61457 (PHS_HUMAN)
Relationships Total Number of functionally related compound(s) : 107
Total Number of Articles : 62
Description

pterin-4 alpha-carbinolamine dehydratase 1

Gene Summary

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]

synonyms
  • pterin-4-alpha-carbinolamine dehydratase
  • 4-alpha-hydroxy-tetrahydropterin dehydratase
  • 6-pyruvoyl-tetrahydropterin synthase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1)
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Properties