Gene Symbol | PCBD1 |
Entrez Gene ID | 5092 |
Full Name | pterin-4 alpha-carbinolamine dehydratase 1 |
Synonyms | DCOH,PCBD,PCD,PHS |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Hyperphenylalaninemia, BH4-deficient, D, 264070 (3) |