免疫原
Synthesized peptide derived from human MMAC AA range: 100-150
特异性
This antibody detects endogenous levels of MMAC at Human/Mouse
组成
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse serum by affinity-chromatography using specific immunogen.
背景
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],
功能
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
