Human GCH1 ELISA Matched Antibody Pair (ABPR-0373)

Regulatory status: For research use only, not for use in diagnostic procedures.

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Species Reactivity
Human
Intended Use
This antibody pair set comes with matched antibody pair to detect and quantify protein level of human GCH1.
General 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.
Reconstitution And Storage
Store reagents of the antibody pair set at -20°C or lower. Please aliquot to avoid repeated freeze thaw cycle. Reagents should be returned to -20°C storage immediately after use.

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References


Kiwuwa, MS; Byarugaba, J; et al. Detection of copy number variation and single nucleotide polymorphisms in genes involved in drug resistance and other phenotypic traits in P. falciparum clinical isolates collected from Uganda. ACTA TROPICA 125:269-275(2013).
Mencacci, N; Polke, J; et al. Is GCH1 a risk locus for Parkinson's disease? Evidence from a case report. MOVEMENT DISORDERS 28:S406-S406(2013).

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