Recombinant Human GCDH Protein (His Tag) (RPES5067)

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SKU:
RPES5067
€303

Description

ELISA Kit Technical Manual

Recombinant Human GCDH Protein (His Tag)

Background:Glutaryl-CoA Dehydrogenase Mitochondrial (GCDH) is an enzyme that acts upon glutaryl-coenzyme A, creating crotonyl-coenzyme A. It plays a role in the metabolism of lysine, hydroxylysine and tryptophan. It uses electron transfer flavoprotein as its electron acceptor. Isoform Short is inactive Glutaryl-CoA and electron-transfer flavoprotein to (E)-but-2-enoyl-CoA, CO2 and reduced electron-transfer flavoprotein. A defect in this enzyme is associated with neurological condition glutaric acidemia type 1 and cause a progressive form of early-onset generalized dystonia.
Name:Recombinant Human GCDH Protein (His Tag)
Size:10µg
Assay Genie SKU:RPES5067
Synonyms:Glutaryl-CoA Dehydrogenase Mitochondrial; GCD; GCDH
Species:Human
Expression host:E.coli
Sequence:Arg45-Lys438
Accession:Q92947
Mol Mass:45.0 kDa
AP Mol Mass:41 kDa
Tag:N-6His
Purity:> 95 % as determined by reducing SDS-PAGE.
Endotoxin:< 1.0 EU per µg as determined by the LAL method.
Storage:Store at < -20°C, stable for 6 months. Please minimize freeze-thaw cycles.
Shipping:This product is provided as liquid. It is shipped at frozen temperature with blue ice/gel packs.Upon receipt, store it immediately at<-20°C.
Formulation:Supplied as a 0.2 um filtered solution of 20mM HEPES, 150mM NaCl, pH 7.4.
Reconstitution:Please refer to the printed manual for detailed information.
UniProt Protein Function:GCDH: Catalyzes the oxidative decarboxylation of glutaryl-CoA to crotonyl-CoA and CO(2) in the degradative pathway of L-lysine, L-hydroxylysine, and L-tryptophan metabolism. It uses electron transfer flavoprotein as its electron acceptor. Isoform Short is inactive. Defects in GCDH are the cause of glutaric aciduria type 1 (GA1). GA1 is an autosomal recessive metabolic disorder characterized by progressive dystonia and athetosis due to gliosis and neuronal loss in the basal ganglia. Belongs to the acyl-CoA dehydrogenase family. 2 isoforms of the human protein are produced by alternative splicing.
UniProt Protein Details:

Protein type:Lipid Metabolism - fatty acid; Amino Acid Metabolism - tryptophan; Mitochondrial; Oxidoreductase; Amino Acid Metabolism - lysine degradation; EC 1.3.8.6

Chromosomal Location of Human Ortholog: 19p13.2

Cellular Component: mitochondrial matrix; mitochondrion

Molecular Function:acyl-CoA binding; electron carrier activity; FAD binding; glutaryl-CoA dehydrogenase activity

Biological Process: fatty acid beta-oxidation using acyl-CoA dehydrogenase; lipid homeostasis; lysine catabolic process

Disease: Glutaric Acidemia I

NCBI Summary:The protein encoded by this gene belongs to the acyl-CoA dehydrogenase family. It catalyzes the oxidative decarboxylation of glutaryl-CoA to crotonyl-CoA and CO(2) in the degradative pathway of L-lysine, L-hydroxylysine, and L-tryptophan metabolism. It uses electron transfer flavoprotein as its electron acceptor. The enzyme exists in the mitochondrial matrix as a homotetramer of 45-kD subunits. Mutations in this gene result in the metabolic disorder glutaric aciduria type 1, which is also known as glutaric acidemia type I. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 12. [provided by RefSeq, Mar 2013]
UniProt Code:Q92947
NCBI GenInfo Identifier:2492631
NCBI Gene ID:2639
NCBI Accession:Q92947.1
UniProt Secondary Accession:Q92947,O14719, A8K2Z2,
UniProt Related Accession:Q92947
Molecular Weight:47,355 Da
NCBI Full Name:Glutaryl-CoA dehydrogenase, mitochondrial
NCBI Synonym Full Names:glutaryl-CoA dehydrogenase
NCBI Official Symbol:GCDH  
NCBI Official Synonym Symbols:GCD; ACAD5  
NCBI Protein Information:glutaryl-CoA dehydrogenase, mitochondrial
UniProt Protein Name:Glutaryl-CoA dehydrogenase, mitochondrial
UniProt Gene Name:GCDH  
UniProt Entry Name:GCDH_HUMAN
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Additional Information

Product type:
Recombinant Protein
Host species:
E.coli
Reactivity:
Human
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