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. [provided by RefSeq, Jul 2008]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| GCH1BA-20-REGO | 20 (40 μL) | 200 μL |
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| GCH1BA-20-REGR | 20 (40 μL) | 200 μL |
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| GCH1BA-20-ORGR | 20 (40 μL) | 200 μL |
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| GCH1BA-20-GOGR | 20 (40 μL) | 200 μL |
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| GCH1BA-20-GRRE | 20 (40 μL) | 200 μL |
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| GCH1BA-20-GROR | 20 (40 μL) | 200 μL |
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| GCH1BA-20-GRGO | 20 (40 μL) | 200 μL |
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| GCH1BA-20-AQOR | 20 (40 μL) | 200 μL |
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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. [provided by RefSeq, Jul 2008]
Gene Symbol : GCH1
Gene Name : GTP cyclohydrolase 1
Chromosome : CHR 14: 549,028,23-548,420,04
Locus : 14q22.2
Alt. Genes : YAF2
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