Methylmalonic Aciduria Type A Protein (MMAA)

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cblA; Cobalamin Deficiency Type A

Methylmalonic Aciduria Type A Protein (MMAA)
Adenosylcobalamin (AdoCbl) is a cobalamin (cbl; vitamin B12)-containing coenzyme necessary for methylmalonyl-CoA mutase (MUT) activity. The MMAA protein is involved in the translocation of cbl into mitochondria for the final steps of AdoCbl synthesis . The deduced 418-amino acid protein has a calculated molecular mass of 46.5 kD. It contains an N-terminal mitochondrial leader sequence cleavage site, Walker A and B ATP-binding motifs, a Mg(2+)-binding site, and a GTP-binding site. MMAA shares 78.8% sequence identity with mouse Mmaa. Northern blot analysis revealed near ubiquitous expression of transcripts of 1.4, 2.6, and 5.5 kb, with highest expression in liver and skeletal muscle. Liver predominantly expressed the 1.4-kb transcript, while skeletal muscle predominantly expressed the 5.5-kb transcript.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Methylmalonic Aciduria Type A Protein (MMAA) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Methylmalonic Aciduria Type A Protein (MMAA) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Methylmalonic Aciduria Type A Protein (MMAA) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Methylmalonic Aciduria Type A Protein (MMAA) CLIA Kit Customized Service Offer
n/a ELISA Kit for Methylmalonic Aciduria Type A Protein (MMAA) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Methylmalonic Aciduria Type A Protein (MMAA) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Methylmalonic Aciduria Type A Protein (MMAA) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Methylmalonic Aciduria Type A Protein (MMAA) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Methylmalonic Aciduria Type A Protein (MMAA) CLIA Kit Customized Service Offer
n/a ELISA Kit for Methylmalonic Aciduria Type A Protein (MMAA) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Methylmalonic Aciduria Type A Protein (MMAA) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Methylmalonic Aciduria Type A Protein (MMAA) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Methylmalonic Aciduria Type A Protein (MMAA) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Methylmalonic Aciduria Type A Protein (MMAA) CLIA Kit Customized Service Offer
n/a ELISA Kit for Methylmalonic Aciduria Type A Protein (MMAA) ELISA Kit Customized Service Offer
  1. "Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements."Proc. Natl. Acad. Sci. U.S.A. 99:15554-15559(2002) [PubMed] [Europe PMC] [Abstract]
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  4. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
  5. "Structures of the human GTPase MMAA and vitamin B12-dependent methylmalonyl-CoA mutase and insight into their complex formation."J. Biol. Chem. 285:38204-38213(2010) [PubMed] [Europe PMC] [Abstract]
  6. "Mutations in the MMAA gene in patients with the cblA disorder of vitamin B(12) metabolism."Hum. Mutat. 24:509-516(2004) [PubMed] [Europe PMC] [Abstract]
  7. "Mutation analysis of the MMAA and MMAB genes in Japanese patients with vitamin B(12)-responsive methylmalonic acidemia: identification of a prevalent MMAA mutation."Mol. Genet. Metab. 82:329-333(2004) [PubMed] [Europe PMC] [Abstract]
  8. "High resolution melting analysis of the MMAA gene in patients with cblA and in those with undiagnosed methylmalonic aciduria."Mol. Genet. Metab. 107:363-367(2012) [PubMed] [Europe PMC] [Abstract]