Anti-GCH1 Rabbit Polyclonal Antibody
Product Information
Downloads & Supports
Target
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GCH1
Host
Storage
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Store at 4°C short term. Aliquot and store at -20°C long term. Avoid freeze/thaw cycles.
Clonality
Clone Number
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-
Isotype
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IgG
Reactivity
Application
Application Details
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WB: 1/500-1/1000 IHC: 1/50-1/100
Immunogen
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Synthetic peptide of human GCH1
Molecular Weight
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Calculated MW: 28 kDa; Observed MW: 28 kDa
Formulation
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pH 7.4 PBS, 0.05% NaN3, 40% Glycerol
Form
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Liquid
Gene ID
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2643
Uniprot ID
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P30793
Background
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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.
Research Area
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Neuroscience
Synonyms
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GCH; DYT5; DYT14; DYT5a; GTPCH1; HPABH4B; GTP-CH-1