DISEASES

Disease-gene associations mined from literature

Literature associating GCH1 and biotin-responsive basal ganglia disease

GCH1 [ENSP00000419045]

GTP cyclohydrolase 1; Positively regulates nitric oxide synthesis in umbilical vein endothelial cells (HUVECs). May be involved in dopamine synthesis. May modify pain sensitivity and persistence. Isoform GCH-1 is the functional enzyme, the potential function of the enzymatically inactive isoforms remains unknown; Belongs to the GTP cyclohydrolase I family.

Synonyms:  GCH1p,  hGCH1,  A0A024R642,  P30793,  Q8IZH9 ...

Linkouts:  STRING  Pharos  UniProt