产品名称
MMAC Rabbit Polyclonal Antibody
存储缓冲液
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% New type preservative N.
Human Gene Link
https://www.uniprot.org/uniprot/25974
Human Swissprot No.
Q9Y4U1
Human Swissprot Link
https://www.uniprot.org/uniprotkb/Q9Y4U1/entry
Mouse Gene Link
https://www.uniprot.org/uniprot/67096
Mouse Swissprot No.
Q9CZD0
Mouse Swissprot Link
https://www.uniprot.org/uniprotkb/Q9CZD0
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
宿主
Polyclonal, Rabbit,IgG
背景介绍
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],
组织表达
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.
细胞定位
Cytoplasm, cytosol .
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 leukocytes.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
