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PCBD1 - pterin-4 alpha-carbinolamine dehydratase 1
- Synonym(s) : dimerizing cofactor for HNF1, PCD, Pterin-4a-carbinolamine dehydratase (dimerization cofactor of hepatic nuclear factor 1-alpha), pterin-4-alpha carbinolamine dehydratase
- Previous symbols and names : 6-pyruvoyl-tetrahydropterin synthase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1), DCOH, PCBD, Pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1), pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha, pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1)
- Type : gene with protein product
- Chromosomal location : 10q22.1
- OMIM: 126090
- HGNC: 8646
- UniProtKB: P61457
- Genatlas: PCBD1
- GenCC: PCBD1
- Ensembl: ENSG00000166228
- IUPHAR-DB: -
- Reactome: P61457
- LOVD: PCBD1
Diseases list
- Disease-causing germline mutation(s) in Pterin-4 alpha-carbinolamine dehydratase deficiency
ORPHA:1578 
: AssessedAdditional information
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