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] |
Found 3 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
14053 | 5092 | PCBD1 | 10 | 72655792 | 72655792 | Asymptomatic | HiSeq X Ten |
14749 | 5092 | PCBD1 | 10 | 72863307 | 72863307 | Cockayne syndrome | HiSeq X Ten |
29288 | 5092 | PCBD1 | 10 | 72645520 | 72645520 | Autism Spectrum Disorders | HiSeq X Ten PASM |