{"symbol":"PCBD1","synonyms":["PCBD","DCOH"],"name":"pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha","description":"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]","ncbiEntrezGeneId":5092,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/5092","proteins":[{"symbol":"PHS_HUMAN","href":"/api/1.0/protein/PHS_HUMAN"}],"hgncRootFamilies":[]}