GCH1

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

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Expression

Upregulated - after 1 hour after exercises.