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GCH1 rabbit pAb

CAT: 0855-ES9684-01Size: 50 µLDry Ice: NoHazardous: No
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CAT#:0855-ES9684-01Size:50 µL
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Background
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]
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. [provided by RefSeq, Jul 2008],
UniProt
P30793
Swiss Prot
P30793
Reactivity
Human; Mouse; Rat
Immunogen
Synthesized peptide derived from part region of human protein
Target
GCH1
Clonality
Polyclonal
Source
Rabbit
Applications
WB; ELISA
Concentration
1 mg/ml
Dilution
WB 1:500-2000 ELISA 1:5000-20000
Buffer
-20°C/1 year
Molecular Weight
27kD
Storage Conditions
-20°C/1 year
Observed Molecular Weight
27kD
Fragment
IgG
Subcellular Location
Cytoplasm . Nucleus .
Gene ID (Human)
2643

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