Automated description from the Alliance of Genome Resources (Release 7.0.0)
Enables GTP cyclohydrolase I activity. Involved in positive regulation of heart rate. Acts upstream of or within regulation of lung blood pressure. Predicted to be located in several cellular components, including cytosol; mitochondrion; and nucleus. Predicted to be part of protein-containing complex. Predicted to be active in cytoplasm. Is expressed in several structures, including alimentary system; genitourinary system; nervous system; respiratory system; and sensory organ. Used to study BH4-deficient hyperphenylalaninemia B. 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).