Immunogen
Synthesized peptide derived from human MMAC AA range: 100-150
Specificity
This antibody detects endogenous levels of MMAC at Human/Mouse
Source
Polyclonal, Rabbit,IgG
Formulation
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Dilution rate
WB 1：500-2000
Purification process (Immunogen)
The antibody was affinity-purified from rabbit serum by affinity-chromatography using specific immunogen.
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
Fields
>>Vitamin digestion and absorption
Human protein sequence Database
Q9Y4U1
Mouse protein sequence database
Q9CZD0
Rat protein sequence database
Cellular localization
Cytoplasm, cytosol .
Tissue 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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