D2HGDH Antibody, HRP conjugated (PACO39079)
- SKU:
- PACO39079
- Product type:
- Antibody
- Reactivity:
- Human
- Host Species:
- Rabbit
- Isotype:
- IgG
- Application:
- ELISA
- Antibody type:
- Polyclonal
- Conjugation:
- HRP
Frequently bought together:
Description
抗体名: | D2HGDH Antibody, HRP conjugated (PACO39079) |
抗体コード: | PACO39079 |
サイズ: | 50ug |
宿主種: | Rabbit |
申し込み: | ELISA |
推奨される希釈: | |
反応性: | Human |
免疫原: | Recombinant Human D-2-hydroxyglutarate dehydrogenase, mitochondrial protein (14-521AA) |
憲法: | Liquid |
ストレージバッファ: | Preservative: 0.03% Proclin 300 Constituents: 50% Glycerol, 0.01M PBS, PH 7.4 |
精製方法: | >95%, Protein G purified |
抗体のクローン性: | Polyclonal |
アイソタイプ: | IgG |
Conjugate: | HRP |
バックグラウンド: | Catalyzes the oxidation of D-2-hydroxyglutarate to alpha-ketoglutarate. |
シノニム: | D-2-hydroxyglutarate dehydrogenase, mitochondrial (EC 1.1.99.-), D2HGDH, D2HGD |
UniProt Protein Function: | D2HGDH: an oxidoreductase that act on the CH-OH group of donor with other acceptors. Catalyzes the oxidation of D-2-hydroxyglutarate (2HG) to alpha-ketoglutarate. Belongs to the FAD-binding oxidoreductase/transferase type 4 family. 2 human isoforms produced by alternative splicing. Defects in D2HGDH are the cause of D-2-hydroxyglutaric aciduria (D2HGA), a rare recessive neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features. Both a mild and a severe phenotype exist. The severe phenotype is homogeneous and is characterized by early infantile-onset epileptic encephalopathy and cardiomyopathy. The mild phenotype has a more variable clinical presentation. Diagnosis is based on the presence of an excess of D-2-hydroxyglutaric acid in the urine. |
UniProt Protein Details: | Protein type:EC 1.1.99.-; Mitochondrial; Oxidoreductase Chromosomal Location of Human Ortholog: 2q37.3 Cellular Component: mitochondrial matrix; mitochondrion Molecular Function:(R)-2-hydroxyglutarate dehydrogenase activity; D-lactate dehydrogenase (cytochrome) activity Biological Process: 2-oxoglutarate metabolic process; cellular protein metabolic process; lactate oxidation; response to calcium ion; response to cobalt ion; response to magnesium ion; response to manganese ion; response to zinc ion Disease: D-2-hydroxyglutaric Aciduria 1 |
NCBI Summary: | This gene encodes D-2hydroxyglutarate dehydrogenase, a mitochondrial enzyme belonging to the FAD-binding oxidoreductase/transferase type 4 family. This enzyme, which is most active in liver and kidney but also active in heart and brain, converts D-2-hydroxyglutarate to 2-ketoglutarate. Mutations in this gene are present in D-2-hydroxyglutaric aciduria, a rare recessive neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features. [provided by RefSeq, Jul 2008] |
UniProt Code: | Q8N465 |
NCBI GenInfo Identifier: | 564730541 |
NCBI Gene ID: | 728294 |
NCBI Accession: | NP_001274178.1 |
UniProt Secondary Accession: | Q8N465,Q6IQ24, Q8N5Q8, B4E3L6, E7ENP2, |
UniProt Related Accession: | Q8N465 |
Molecular Weight: | 70.83kD |
NCBI Full Name: | D-2-hydroxyglutarate dehydrogenase, mitochondrial isoform 2 |
NCBI Synonym Full Names: | D-2-hydroxyglutarate dehydrogenase |
NCBI Official Symbol: | D2HGDH |
NCBI Official Synonym Symbols: | D2HGD |
NCBI Protein Information: | D-2-hydroxyglutarate dehydrogenase, mitochondrial |
UniProt Protein Name: | D-2-hydroxyglutarate dehydrogenase, mitochondrial |
Protein Family: | D-2-hydroxyglutarate dehydrogenase |
UniProt Gene Name: | D2HGDH |