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GCH1 Polyclonal Antibody, 50ul Cell Biology Mutations in this gene cause

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GCH1 Polyclonal Antibody, 50ul Cell Biology Mutations in this gene causeThis 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.

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Description

Mutations in this gene cause epidermolytic palmoplantar keratoderma

G-alphai3 and G-alphaz but fails to interact with the structurally and functionally distinct G-alpha subunits

Multiple alternatively spliced transcript variants encoding different protein isoforms have been found for this gene

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The encoded preproprotein present in plasma as a non-covalent complex with high molecular weight kininogen undergoes proteolytic processing mediated by activated coagulation factor XII to generate a disulfide-linked

GCH1 Polyclonal Antibody, 50ul Cell Biology Mutations in this gene causeThis 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.

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