GCH1 Antibody

Cusabio

GCH1 Antibody

20

Western Blot, ELISA, ImmunoHistoChemistry

Research Use Only

Polyclonal

Unconjugated

Rabbit

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.

Human

-20°C or -80°C

12352203