GCH1
From Muscle
This gene encodes a member of the GTP cyclohydrolase family.
Action
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.
GTP + H2O = formate + 2-amino-4-hydroxy-6-(erythro-1,2,3-trihydroxypropyl)-dihydropteridine triphosphate
May modify pain sensitivity and persistence [1].
Kinetics
KM=116 µM for GTP [2].
Pathways
7,8-dihydroneopterin triphosphate biosynthesis eNOS activation
Diseases
Hyperphenylalaninemia, Bh4-Deficient, B and Dystonia, Dopa-Responsive, With Or Without Hyperphenylalaninemia.
References
- George SZ, Parr JJ, Wallace MR, Wu SS, Borsa PA, Dai Y, and Fillingim RB. Biopsychosocial influence on exercise-induced injury: genetic and psychological combinations are predictive of shoulder pain phenotypes. J Pain. 2014 Jan;15(1):68-80. DOI:10.1016/j.jpain.2013.09.012 |
- Shen RS, Alam A, and Zhang YX. Human liver GTP cyclohydrolase I: purification and some properties. Biochimie. 1989 Mar;71(3):343-9. DOI:10.1016/0300-9084(89)90006-0 |
Expression
Upregulated - after 1 hour after exercises.
