GCH1 Polyclonal Antibody

Ab type

Primary antibody

Background

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.

Reactivity

Human, Mouse, Rat

Clonality

Polyclonal

Host

Rabbit

Isotype

IgG

Immunogen

Synthesized peptide derived from part region of human protein

Storage Stability

-20°C for 1 year

Concentration

1 mg/ml

MolecularWeight_Da

synonyms

GTP cyclohydrolase 1 ;EC 3.5.4.16;GTP cyclohydrolase I;GTP-CH-I