Description
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 |
Additional Information
Product type: |
Recombinant Protein |
Host species: |
E.coli |
Reactivity: |
Human |