anti-GCH1 antibody

Arigo Biolaboratories

anti-GCH1 antibody

23

Western Blot, ImmunoHistoChemistry, ImmunoHistoChemistry Paraffin

Research Use Only

Polyclonal

0.5 mg/ml

Unconjugated

GCH1

GTP cyclohydrolase 1

dystonia 14; DYT14; DYT5; DYT5a; GCH; GTP cyclohydrolase 1; GTP cyclohydrolase I; GTPCH1; GTP-CH-1; GTP-CH-I; guanosine 5'-triphosphate cyclohydrolase I; HPABH4B

Goat

IgG

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]

Human, Mouse, Rat

-20°C

12352203