Literature associating GCH1 and biotin-responsive basal ganglia disease
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 ...