GCH1

GTP cyclohydrolase 1

Details

HGNC: HGNC:4193
GeneCards: GCH1
NCBI: 2643
Ensembl: ENSG00000131979
UniProt: P30793
OMIM: 600225
UCSC: uc059bsc.1
VEGA: OTTHUMG00000029754
ENA: U19523
Alias Symbols: GTPCH1, DYT5a
Previous Symbols: GCH, DYT5, DYT14
Alias Names: "dopa-responsive dystonia", "GTP cyclohydrolase I"
Previous Names: "dystonia 14"

Associated Studies

Transcriptional reprogramming primes CD8+ T cells toward exhaustion in Myalgic encephalomyelitis/chronic fatigue syndrome

2024 | Iu et al

Phenotype: ME/CFS, ME/CFS - CCC criteria, ME/CFS - IOM (Institute of Medicine) 2015 criteria, Post-exertional malaise (PEM)
Dysregulation of tetrahydrobiopterin metabolism in myalgic encephalomyelitis/chronic fatigue syndrome by pentose phosphate pathway

2024 | Bulbule et al

Phenotype: ME/CFS, Orthostatic intolerance (OI)