Product Description

MMAC Rabbit Polyclonal Antibody

Sizes: 50μL, 100μL

Catalogue Numbers: ES14931-50, ES14931-100

Lead times: 1-2 weeks, if manufacturer has product in stock

Manufacturer/Ship Location: China

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],

Reactivity: Human, Mouse

Host: Rabbit

Applications: WB

Clonality: Polyclonal

Immunogen: Synthesized peptide derived from human MMAC AA range: 100-150

Isotype: IgG

Target: MMAC

Specificity: This antibody detects endogenous levels of MMAC at Human/Mouse

Dilution: WB 1：500-2000

Purification: The antibody was affinity-purified from rabbit serum by affinity-chromatography using specific immunogen.

Concentration: 1 mg/ml,

Formlation: Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.

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,

Molecular Weight (Da): 31kD

Fields: Vitamin digestion and absorption

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

Storage and Stability: -20°C/1 year

Gene Name: MMACHC

Protein Name: MMAC

Mouse Gene ID: 67096

Mouse SwissProt Number: Q9CZD0

Research Use Only