靶标：
GCH1
产品别名：
DYT14； DYT5； DYT5a； GCH； GTP-CH-1； GTPCH1； HPABH4B； GCH1； GTP cyclohydrolase 1； GTP cyclohydrolase 1； GTP cyclohydrolase 1； GTP cyclohydrolase I； GTP-CH-I； dystonia 14； guanosine 5'-triphosphate cyclohydrolase I； 三磷酸鸟苷环水解酶；
背景信息：
This gene encodes a member of the GTP cyclohydrolase family. The encoded protein is the first and rate-limiting enzyme in tetrahydrobiopterin (BH4) biosynthesis, catalyzing the conversion of GTP into 7,8-dihydroneopterin triphosphate. BH4 is an essential cofactor required by aromatic amino acid hydroxylases as well as nitric oxide synthases. Mutations in this gene are associated with malignant hyperphenylalaninemia and dopa-responsive dystonia. Several alternatively spliced transcript variants encoding different isoforms have been described; however, not all variants give rise to a functional enzyme. [provided by RefSeq, Jul 2008],
