GCH1 polyclonal, anti-human

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.

Other Names:
GTP cyclohydrolase 1, 3.5.4.16, GTP cyclohydrolase I, GTP-CH-I, GCH1, DYT5, GCH

Antigen Types:
Synthetic Peptide

Gene Name:
GCH1
Gene ID:
2643
Primary Accession: P30793
Other Accession: NP_001019242;2643;14528 (mouse); 29244 (rat);