Background:

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. GCH1 (GTP Cyclohydrolase 1) is a Protein Coding gene. Diseases associated with GCH1 include Hyperphenylalaninemia, Bh4-Deficient, B and Dystonia, Dopa-Responsive, With Or Without Hyperphenylalaninemia. Among its related pathways are eNOS activation and regulation and Metabolism.

Alternative names:

N/A

Clonality:

Polyclonal

Reactivity:

Human,Mouse,Rat

Source:

Rabbit

Isotype:

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Immunogen:

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Concentration:

1mg/ml

Applications:

WB, ELISA

Recommende dilutions:

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Storage:

PBS with 0.02% sodium azide and 50% glycerol pH 7.4. Store at -20°C. Avoid repeated freeze-thaw cycles.

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