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MMAA elisa kit :: Human methylmalonic aciduria (cobalamin deficiency) cblA type ELISA Kit

Scan QR to view Datasheet Catalog #    MBS9323020 MMAA elisa kit
Unit / Price
48-Strip-Wells  /  $500 +1 FREE 8GB USB
96-Strip-Wells  /  $710 +1 FREE 8GB USB
5x96-Strip-Wells  /  $3,250 +4 FREE 8GB USB
10x96-Strip-Wells  /  $6,395 +7 FREE 8GB USB
 Go to:   rightarrow  Product Names   rightarrow Product Info   rightarrow Accession #s   rightarrow Product Desc   rightarrow Diseases/Tissues/Pathways   rightarrow Applications   rightarrow References 
 Product Name   

methylmalonic aciduria (cobalamin deficiency) cblA type (MMAA), ELISA Kit

 Also Known As   

Human Methylmalonic aciduria type A protein, mitochondrial, MMAA ELISA Kit

 Product Synonym Names    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
 Product Gene Name   

MMAA elisa kit

[Similar Products]
 Research Use Only    For Research Use Only. Not for use in diagnostic procedures.
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 Request for Current Manual Insert    Request Current Manual
 OMIM    607481
 3D Structure    ModBase 3D Structure for Q8IVH4
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 Species Reactivity    Human
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 Preparation and Storage    Store all reagents at 2-8 degree C
 Product Note    Our ELISA Kit assays are dynamic research tools and sometimes they may be updated and improved. If the format of this assay is important to you then please request the current manual or contact our technical support team with a presales inquiry before placing an order. We will confirm the current details of the assay. We cannot guarantee the sample manual posted online is the most current manual.
 Other Notes    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.
 Searchable Terms for MMAA purchase    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(%).
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NCBI/Uniprot data below describe general gene information for MMAA. It may not necessarily be applicable to this product.
 NCBI GI #    26892295
 NCBI GeneID    166785
 NCBI Accession #    NP_758454.1 [Other Products]
 NCBI GenBank Nucleotide #    NM_172250.2 [Other Products]
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 UniProt Primary Accession #    Q8IVH4 [Other Products]
 UniProt Secondary Accession #    Q495G7; B3KX40 [Other Products]
 UniProt Related Accession #    Q8IVH4 [Other Products]
 Molecular Weight    46,538 Da
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 NCBI Official Full Name    methylmalonic aciduria type A protein, mitochondrial
 NCBI Official Synonym Full Names    methylmalonic aciduria (cobalamin deficiency) cblA type
 NCBI Official Symbol    MMAA [Similar Products]
 NCBI Official Synonym Symbols   
[Similar Products]
 NCBI Protein Information    methylmalonic aciduria type A protein, mitochondrial
 UniProt Protein Name    Methylmalonic aciduria type A protein, mitochondrial
 Protein Family    Methylmalonic aciduria
 UniProt Gene Name    MMAA [Similar Products]
 UniProt Entry Name    MMAA_HUMAN
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 NCBI Summary for MMAA    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]
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 UniProt Comments for MMAA    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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 Research Articles on MMAA    1. Ten novel mutational MMAA variants have been identified in patients with methylmalonic aciduria.
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 Precautions    All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
 Disclaimer    While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice.

It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
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Products associated with MMAA elisa kitDiseases associated with MMAA elisa kit
 Reference Product  PubMed Publications
 MUT elisa kit  >7 publications with MMAA and MUT
 Disease Name  Pubmed Publications
 Mental Disorders Antibodies  >10 publications with MMAA and Mental Disorders
 Substance-Related Disorders Antibodies  >5 publications with MMAA and Substance-Related Disorders
 Acidosis Antibodies  >5 publications with MMAA and Acidosis
 Methylmalonic aciduria cblA type Antibodies  >3 publications with MMAA and Methylmalonic aciduria cblA type
 Pregnancy Complications Antibodies  >2 publications with MMAA and Pregnancy Complications
 Hyperammonemia Antibodies  >2 publications with MMAA and Hyperammonemia
 Hepatomegaly Antibodies  >2 publications with MMAA and Hepatomegaly
 Lethargy Antibodies  >2 publications with MMAA and Lethargy
 Fetal Death Antibodies  >1 publications with MMAA and Fetal Death
 Congenital Abnormalities Antibodies  >1 publications with MMAA and Congenital Abnormalities
Organs/Tissues associated with MMAA elisa kit
 Organ/Tissue Name  Pubmed Publications
 Blood Antibodies  >10 publications with MMAA and Blood
 Liver Antibodies  >5 publications with MMAA and Liver
 Kidney Antibodies  >4 publications with MMAA and Kidney
 Muscle Antibodies  >2 publications with MMAA and Muscle
 Stomach Antibodies  >2 publications with MMAA and Stomach
 Intestine Antibodies  >1 publications with MMAA and Intestine
 Brain Antibodies  >1 publications with MMAA and Brain
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