| ELK.No | ES14931 |
| Product name | MMAC rabbit pAb |
| Reactivity | Human; Mouse |
| Applications | WB |
| Other name | |
| Size | 100μL |
| Unit price ($) | 248 |
| Human gene ID | 25974 |
| Human Swiss-Prot | Q9Y4U1 |
| Source | Rabbit |
| Isotype | IgG |
| Target | MMAC |
| Fields | >>Vitamin digestion and absorption |
| Gene name | MMACHC |
| Protein name | MMAC |
| Human gene link | View Human Gene |
| Human Swiss link | View Human Swiss-Prot |
| Mouse gene ID | 67096 |
| Mouse gene link | View Mouse Gene |
| Mouse Swiss-Prot | Q9CZD0 |
| Mouse Swiss link | View Mouse Swiss-Prot |
| Rat gene ID | |
| Rat gene link | |
| Rat Swiss-Prot | |
| Rat Swiss link | |
| Immunogen | Synthesized peptide derived from human MMAC AA range: 100-150 |
| Specificity | This antibody detects endogenous levels of MMAC at Human/Mouse |
| Formulation | Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide. |
| Clonality | Polyclonal |
| Dilution | WB 1:500-2000 |
| Purification | The antibody was affinity-purified from rabbit serum by affinity-chromatography using specific immunogen. |
| Concentration | 1 mg/ml |
| Storage stability | -20°C/1 year |
| Molecular Weight (Da) | 31kD |
| Observed band (KD) | |
| Background | 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], |
| Function | disease:Defects in MMACHC are the cause of methylmalonic aciduria and homocystinuria type cblC (MMACHC) [MIM:277400]. MMACHC is 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.,function:May be involved in the binding and intracellular trafficking of cobalamin (vitamin B12).,pathway:Cofactor biosynthesis; adenosylcobalamin biosynthesis.,similarity:Belongs to the MMACHC family.,tissue specificity:Widely expressed. Expressed at higher level in fetal liver. Also expressed in spleen, lymph node, thymus and bone marrow. Weakly or not expressed in peripheral blood leukocy |
| Subcellular location | Cytoplasm, cytosol . |
| Expression | Widely expressed. Expressed at higher level in fetal liver. Also expressed in spleen, lymph node, thymus and bone marrow. Weakly or not expressed in peripheral blood leukocytes. |

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