PCBD1

pterin-4 alpha-carbinolamine dehydratase 1

Details

HGNC: HGNC:8646
GeneCards: PCBD1
NCBI: 5092
Ensembl: ENSG00000166228
UniProt: P61457
OMIM: 126090
UCSC: uc001jrn.3
VEGA: OTTHUMG00000018417
ENA: BC006324

Alias Symbols: PCD
Previous Symbols: DCOH, PCBD
Alias Names: "Pterin-4a-carbinolamine dehydratase (dimerization cofactor of hepatic nuclear factor 1-alpha)", "pterin-4-alpha carbinolamine dehydratase", "dimerizing cofactor for HNF1"
Previous Names: "6-pyruvoyl-tetrahydropterin synthase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1)", "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"

Associated Studies

Replicated blood-based biomarkers for myalgic encephalomyelitis not explicable by inactivity

2025 | Beentjes et al

Phenotype: ME/CFS
Dysregulation of tetrahydrobiopterin metabolism in myalgic encephalomyelitis/chronic fatigue syndrome by pentose phosphate pathway

2024 | Bulbule et al

Phenotype: ME/CFS, Orthostatic intolerance (OI)