Species: Hu, Mu, Rt
Applications: ICC/IF, IHC
Host: Rabbit Polyclonal
Species: Mu, Rt
Applications: WB, ELISA, IHC, IP
Host: Rabbit Polyclonal
Species: Hu, Mu, Rt
Applications: ELISA, IHC
Host: Goat Polyclonal
Species: Hu
Applications: WB
Species: Hu
Applications: WB
Species: Hu
Applications: WB, ELISA, MA, AP, Enzyme Activity
Species: Hu
Applications: AC
Description
GCH1 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.
Bioinformatics
| Entrez |
Mouse
Human
Rat
|
| Uniprot |
Human
Human
Human
Human
Human
Human
Human
|
| Product By Gene ID |
2643 |
| Alternate Names |
- dystonia 14
- DYT14
- DYT5a
- DYT5EC 3.5.4.16
- GCH
- GTP cyclohydrolase 1
- GTP cyclohydrolase I
- GTPCH1
- GTP-CH-1
- GTP-CH-I
- guanosine 5'-triphosphate cyclohydrolase I
- HPABH4B
|
