Gene Symbol | GCH1 |
Entrez Gene ID | 2643 |
Full Name | GTP cyclohydrolase 1 |
Synonyms | DYT14,DYT5,DYT5a,GCH,GTP-CH-1,GTPCH1,HPABH4B |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230 (3); Hyperphenylalaninemia, BH4-deficient, B, 233910 (3) |