Entrez gene ID | | 5092 |
Official gene symbol | | PCBD1 |
Full name | | pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha |
Aliases | | ,DCOH,PCBD,PCD,PHS, |
Gene summary | | This gene encodes pterin-4 alpha-carbinolamine dehydratase, an enzyme involved in phenylalanine hydroxylation. A deficiency of this enzyme leads to hyperphenylalaninemia. The enzyme regulates the homodimerization of the transcription factor hepatocyte nuclear factor 1 (HNF1). [provided by RefSeq] |
Location | | Chromosome: 10 Locus: 10q22 |
Gene position | | 72648541 - 72643267 Map Viewer |
Gene orientation | | minus |
Gene size | | 5275 bp |
Gene sequence |
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OMIM ID | | 126090 |
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