MMACHC Antibody (PACO10520)
- SKU:
- PACO10520
- Product type:
- Antibody
- Reactivity:
- Human
- Reactivity:
- Mouse
- Reactivity:
- Rat
- Host Species:
- Rabbit
- Isotype:
- IgG
- Application:
- ELISA
- Application:
- WB
- Antibody type:
- Polyclonal
- Conjugation:
- Unconjugated
Frequently bought together:
Description
抗体名: | MMACHC Antibody (PACO10520) |
抗体コード: | PACO10520 |
サイズ: | 50ul |
宿主種: | Rabbit |
申し込み: | ELISA, WB |
推奨される希釈: | |
反応性: | Human, Mouse, Rat |
免疫原: | Human MMACHC |
憲法: | Liquid |
ストレージバッファ: | PBS with 0.02% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles. |
精製方法: | Antigen Affinity purified |
抗体のクローン性: | Polyclonal |
アイソタイプ: | IgG |
Conjugate: | Non-conjugated |
シノニム: | methylmalonic acid, ria (cobalamin deficiency) cblC type, with homocystinuria;MMACHC;DKFZp564I122;FLJ25671;RP11-291L19.3;cblC ; |
UniProt Protein Function: | MMACHC: May be involved in the binding and intracellular trafficking of cobalamin (vitamin B12). Defects in MMACHC are the cause of methylmalonic aciduria and homocystinuria type cblC (MMAHCC). A disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood. Belongs to the MMACHC family. |
UniProt Protein Details: | Protein type:Motility/polarity/chemotaxis Chromosomal Location of Human Ortholog: 1p34.1 Cellular Component: cytoplasm; cytosol Molecular Function:cyanocobalamin reductase (cyanide-eliminating) activity; demethylase activity; glutathione binding; oxidoreductase activity; protein binding; protein homodimerization activity Biological Process: cobalamin biosynthetic process; cobalamin metabolic process; glutathione metabolic process Disease: Methylmalonic Aciduria And Homocystinuria, Cblc Type |
NCBI Summary: | The exact function of the protein encoded by this gene is not known, however, its C-terminal region shows similarity to TonB, a bacterial protein involved in energy transduction for cobalamin (vitamin B12) uptake. Hence, it is postulated that this protein may have a role in the binding and intracellular trafficking of cobalamin. Mutations in this gene are associated with methylmalonic aciduria and homocystinuria type cblC. [provided by RefSeq, Oct 2009] |
UniProt Code: | Q9Y4U1 |
NCBI GenInfo Identifier: | 85681045 |
NCBI Gene ID: | 25974 |
NCBI Accession: | Q9Y4U1.3 |
UniProt Secondary Accession: | Q9Y4U1,Q5T157, Q9BRQ7, |
UniProt Related Accession: | Q9Y4U1 |
Molecular Weight: | 32kDa |
NCBI Full Name: | Methylmalonic aciduria and homocystinuria type C protein |
NCBI Synonym Full Names: | methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria |
NCBI Official Symbol: | MMACHC |
NCBI Official Synonym Symbols: | cblC |
NCBI Protein Information: | methylmalonic aciduria and homocystinuria type C protein |
UniProt Protein Name: | Methylmalonic aciduria and homocystinuria type C protein |
UniProt Synonym Protein Names: | CblC |
Protein Family: | MMACHC-like protein |
UniProt Gene Name: | MMACHC |