Pterin 4 Alpha Carbinolamine Dehydratase 1 (PCBD1)

PCBD1 encodes pterin-4 alpha-carbinolamine dehydratase, an enzyme involved in phenylalanine hydroxylation. A deficiency of this enzyme leads to hyperphenylalaninemia.human PCBD/DCOH was present predominantly in liver and kidney, with significant amounts in testis and ovary, trace amounts in lung, and undetectable levels in whole brain, heart, and spleen. It was expressed in all of the cells that were examined. It was also present in the nucleus of HeLa cells, which lack HNF1, and in the cytoplasm of fibroblasts, that have little or no BH4. PCBD is a widely distributed protein, with differential expression in different tissues and cells that is regulated at both the transcriptional and translational levels.