GCH1 gene

The GCH1 gene provides instructions for making an enzyme called GTP cyclohydrolase 1, which is essential for producing a molecule called tetrahydrobiopterin (BH4). BH4 is a helper compound that aids in creating neurotransmitters like dopamine and serotonin, which regulate mood, movement, and other body functions. Mutations in GCH1 can disrupt BH4 production, leading to conditions like dopa-responsive dystonia—a movement disorder that causes muscle stiffness and abnormal movements. In summary, GCH1 plays a crucial role in the body's ability to produce key brain chemicals that influence movement and mood.