FEATURES

FAMILY

DESCRIPTION

Also known as GCH1_HUMAN, GCH1, DYT5, GCH. 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. Toroid-shaped homodecamer, composed of a dimer of pentamers. The inactive isoforms also form decamers and may possibly be incorporated into GCH1 heterodecamers, decreasing enzyme stability and activity. Interacts with AHSA1 and GCHFR/GFRP.

EXTERNAL LINKS

uniprot
enzyme classification
PhosphoSitePlus

GCH1

Mutations

Mutation(s) distribution

Mutations table