Enables GTP cyclohydrolase I activity. Involved in folic acid-containing compound biosynthetic process. Located in nucleus. Used to study dystonia. Human ortholog(s) of this gene implicated in several diseases, including BH4-deficient hyperphenylalaninemia B; diabetic angiopathy; movement disease (multiple); sickle cell anemia; and type 2 diabetes mellitus. Orthologous to human GCH1 (GTP cyclohydrolase 1).
SGD Description
GTP-cyclohydrolase I, catalyzes first step in folic acid biosynthesis; human homolog GCH1 is implicated in dopa-responsive dystonia (DRD), and can complement yeast null mutant