methylmalonic aciduria (cobalamin deficiency) cblA type, ELISA Kit

Human Methylmalonic aciduria type A protein; mitochondrial (MMAA) ELISA kit; MGC120010; MGC120011; MGC120012; MGC120013; cblA; methylmalonic aciduria type A; methylmalonic aciduria (cobalamin deficiency) cblA type

For Research Use Only. Not for use in diagnostic procedures.

Store all reagents at 2-8 degree C

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Small volumes of MMAA elisa kit vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

MBS9323020 is a ready-to-use microwell, strip plate ELISA (enzyme-linked immunosorbent assay) Kit for analyzing the presence of the methylmalonic aciduria (cobalamin deficiency) cblA type (MMAA) ELISA Kit target analytes in biological samples. The concentration gradients of the kit standards or positive controls render a theoretical kit detection range in biological research samples containing MMAA. The ELISA analytical biochemical technique of the MBS9323020 kit is based on MMAA antibody-MMAA antigen interactions (immunosorbency) and an HRP colorimetric detection system to detect MMAA antigen targets in samples. The ELISA Kit is designed to detect native, not recombinant, MMAA. Appropriate sample types may include undiluted body fluids and/or tissue homogenates, secretions. Quality control assays assessing reproducibility identified the intra-assay CV (%) and inter-assay CV(%).

46,538 Da

methylmalonic aciduria (cobalamin deficiency) cblA type

methylmalonic aciduria type A protein, mitochondrial

Methylmalonic aciduria type A protein, mitochondrial

MMAA_HUMAN

The protein encoded by this gene is involved in the translocation of cobalamin into the mitochondrion, where it is used in the final steps of adenosylcobalamin synthesis. Adenosylcobalamin is a coenzyme required for the activity of methylmalonyl-CoA mutase. Defects in this gene are a cause of methylmalonic aciduria. [provided by RefSeq, Jul 2008]

MMAA: Probable GTPase. May function as chaperone. May be involved in the transport of cobalamin (Cbl) into mitochondria for the final steps of adenosylcobalamin (AdoCbl) synthesis. Defects in MMAA are the cause of methylmalonic aciduria type cblA (MMAA); also known as methylmalonic aciduria type A or vitamin B12-responsive methylmalonicaciduria of cblA complementation type. MMAA is a disorder of methylmalonate and cobalamin metabolism due to defective synthesis of adenosylcobalamin. Inheritance is autosomal recessive. Belongs to the ArgK family.

Protein type: Chaperone; EC 3.6.-.-

Chromosomal Location of Human Ortholog: 4q31.21

Cellular Component: mitochondrial matrix

Molecular Function: GTP binding; hydrolase activity

Biological Process: vitamin metabolic process; fatty acid beta-oxidation; short-chain fatty acid catabolic process; cobalamin metabolic process; cobalamin biosynthetic process; cellular lipid metabolic process; water-soluble vitamin metabolic process

Disease: Methylmalonic Aciduria, Cbla Type

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