PCBD1 (Entrez ID: 5092)

Entrez Gene ID 5092
Official Gene Symbol PCBD1 (GeneCards)
Full name pterin-4 alpha-carbinolamine dehydratase 1
Location 10q22.1
Other ids Vega : OTTHUMG00000018417
MIM : 126090
HGNC : HGNC:8646
Ensembl : ENSG00000166228
Other names 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]

Variants

Found 3 variants in this database.