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GCH1
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.
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets
Predicted location
Intracellular
Single cell type specificity
Cell type enhanced (Enteroendocrine cells, Hepatocytes)
Immune cell specificity
Immune cell enhanced (non-classical monocyte)
Cell line specificity
Cell line enhanced (BEWO, Daudi, JURKAT, SH-SY5Y)
Interaction
Toroid-shaped homodecamer, composed of a dimer of pentamers. The inactive isoforms also form decamers and may possibly be incorporated into GCH1 heterodecamers, decreasing enzyme stability and activity. Interacts with AHSA1 and GCHFR/GFRP.
Molecular function
Allosteric enzyme, Hydrolase
More Types Infomation
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- Derivation: Mouse
- Species Reactivity: Human
- Type: Mouse IgG3, κ
- Application: WB, ELISA, IF, IHC, IP
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For Research Use Only. Not For Clinical Use.