| Entrez Gene ID |
2643 |
| Official Gene Symbol |
GCH1 (GeneCards) |
| Full name |
GTP cyclohydrolase 1 |
| Location |
14q22.2 |
| Other ids |
Vega : OTTHUMG00000029754
MIM : 600225
HGNC : HGNC:4193
Ensembl : ENSG00000131979
|
| Other names |
GCH,
DYT5,
DYT14,
DYT5a,
GTPCH1,
HPABH4B,
GTP-CH-1
|
| 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] |