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 |
|---|---|---|---|---|
| GCH1-20-RE | 20 (40 μL) | 200 μL |  |
Request Pricing |
| GCH1-20-OR | 20 (40 μL) | 200 μL |  |
Request Pricing |
| GCH1-20-GO | 20 (40 μL) | 200 μL |  |
Request Pricing |
| GCH1-20-GR | 20 (40 μL) | 200 μL |  |
Request Pricing |
| GCH1-20-AQ | 20 (40 μL) | 200 μL |  |
Request Pricing |
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
Lorem Ipsum is simply dummy text of the printing and typesetting industry.
Lorem Ipsum is simply dummy text of the printing and typesetting industry.