The GCH1 Antibody from MyBioSource.com is a Rabbit Polyclonal antibody to Gch1, GTP cyclohydrolase 1, and GTPCH1. This antibody recognizes Human antigen. The GCH1 Antibody has been validated for the following applications: Immunohistochemistry, and Western Blot.
Description
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