GCH1 Polyclonal / Unconjugated /

Citations: (1)
Product Details
Supplier Novus Biologicals, a Bio-Techne brand
Catalog #: H00002643-B01P (View supplier product page)
Size 50 μg
Price $399.00
Antigen GCH1
Clone
Host Mouse
Isotype IgG
Conjugate Unconjugated
Target Species Human
Applications WB, ICC/IF
Description GCH1 - GTP cyclohydrolase 1 (dopa-responsive dystonia),
About GCH1 and Purified
GCH1 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]
Citations
PMID 19286667
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Purified Excitation and Emission Spectra