PCBD1, Official Symbol PCBD1provided by HGNC Official Full Name pterin-4 alpha-carbinolamine dehydratase 1provided by HGNC Primary source HGNC:HGNC:8646 See related Ensembl:ENSG00000166228 MIM:126090; AllianceGenome:HGNC:8646 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PCD; PHS; DCOH; PCBD 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] Expression Ubiquitous expression in liver (RPKM 47.7), kidney (RPKM 31.6) and 25 other tissues See more Orthologs mouse all