Entrez 5092 | Ensembl ENSG00000166228 | |
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Aliases PCBD1, DCOH, PCBD, PCD, PHS, pterin-4 alpha-carbinolamine dehydratase 1 External IDs MGI: 94873 HomoloGene: 57028 GeneCards: PCBD1 | ||
Pterin-4-alpha-carbinolamine dehydratase is an enzyme that in humans is encoded by the PCBD1 gene.
Contents
Function
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).
Interactions
References
PCBD1 Wikipedia(Text) CC BY-SA