DMGDH Antibody, Biotin conjugated (PACO57535)
- SKU:
- PACO57535
- Product type:
- Antibody
- Reactivity:
- Human
- Host Species:
- Rabbit
- Isotype:
- IgG
- Application:
- ELISA
- Antibody type:
- Polyclonal
- Conjugation:
- Biotin
Frequently bought together:
Description
| 抗体名: | DMGDH Antibody, Biotin conjugated (PACO57535) |
| 抗体コード: | PACO57535 |
| 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 Dimethylglycine dehydrogenase, mitochondrial protein (429-524AA) |
| 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: | Biotin |
| バックグラウンド: | Catalyzes the demethylation of N,N-dimethylglycine to sarcosine. Also has activity with sarcosine in vitro. |
| シノニム: | Dimethylglycine dehydrogenase, mitochondrial (EC 1.5.8.4) (ME2GLYDH), DMGDH |
| UniProt Protein Function: | DMGDH: Defects in DMGDH are the cause of DMGDH deficiency (DMGDHD). DMGDHD is a disorder characterized by fish odor, muscle fatigue with increased serum creatine kinase. Biochemically it is characterized by an increase of N,N- dimethylglycine (DMG) in serum and urine. Belongs to the GcvT family. |
| UniProt Protein Details: | Protein type:Amino Acid Metabolism - glycine, serine and threonine; EC 1.5.8.4; Mitochondrial; Oxidoreductase Chromosomal Location of Human Ortholog: 5q14.1 Cellular Component: mitochondrial matrix Molecular Function:dimethylglycine dehydrogenase activity; electron carrier activity Biological Process: betaine catabolic process; choline metabolic process; glycine metabolic process Disease: Dimethylglycine Dehydrogenase Deficiency |
| NCBI Summary: | This gene encodes an enzyme involved in the catabolism of choline, catalyzing the oxidative demethylation of dimethylglycine to form sarcosine. The enzyme is found as a monomer in the mitochondrial matrix, and uses flavin adenine dinucleotide and folate as cofactors. Mutation in this gene causes dimethylglycine dehydrogenase deficiency, characterized by a fishlike body odor, chronic muscle fatigue, and elevated levels of the muscle form of creatine kinase in serum. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] |
| UniProt Code: | Q9UI17 |
| NCBI GenInfo Identifier: | 296434575 |
| NCBI Gene ID: | 29958 |
| NCBI Accession: | Q9UI17.2 |
| UniProt Secondary Accession: | Q9UI17,B2RBN0, B4E1J9, |
| UniProt Related Accession: | Q9UI17 |
| Molecular Weight: | 45,079 Da |
| NCBI Full Name: | Dimethylglycine dehydrogenase, mitochondrial |
| NCBI Synonym Full Names: | dimethylglycine dehydrogenase |
| NCBI Official Symbol: | DMGDH |
| NCBI Official Synonym Symbols: | DMGDHD; ME2GLYDH |
| NCBI Protein Information: | dimethylglycine dehydrogenase, mitochondrial |
| UniProt Protein Name: | Dimethylglycine dehydrogenase, mitochondrial |
| UniProt Synonym Protein Names: | ME2GLYDH |
| Protein Family: | Dimethylglycine dehydrogenase |
| UniProt Gene Name: | DMGDH |
| UniProt Entry Name: | M2GD_HUMAN |