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Full name:
Methylmalonic Aciduria (Cobalamin Deficiency) Type A ELISA Kits (MMAA)
On www.antibodies-online.com are 0 Methylmalonic Aciduria (Cobalamin Deficiency) Type A (MMAA) ELISA Kits from different suppliers available. Additionally we are shipping MMAA Antibodies (46) and MMAA Proteins (6) and many more products for this protein. A total of 57 MMAA products are currently listed.
Synonyms:
2810018E08Rik, AI840684, cblA, IMAA, MMAA
list all ELISA KIts Gene Name GeneID UniProt
Mouse MMAA MMAA 109136 Q8C7H1
Human MMAA MMAA 166785 Q8IVH4

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More ELISA Kits for MMAA Interaction Partners

Mouse (Murine) Methylmalonic Aciduria (Cobalamin Deficiency) Type A (MMAA) interaction partners

  1. The mouse methylmalonic aciduria- related genes, Mmaa, Mmab (show MMAB ELISA Kits), and Mut (show MUT ELISA Kits) may have specialized functions depending on the tissue or cell type.

Human Methylmalonic Aciduria (Cobalamin Deficiency) Type A (MMAA) interaction partners

  1. A novel deletion in the MMAA gene in two Iranian siblings with vitamin B12-responsive methylmalonic academia was identified. The deletion in exon 4 of the MMAA gene (c.674 delA) is a pathogenic allele via a nucleotide frame shift resulting in a stop codon and termination of protein synthesis 38 nucleotides (12 amino acids) downstream of the deletion.

  2. Ten novel mutational MMAA variants have been identified in patients with methylmalonic aciduria.

  3. MMAA acts as a chaperone of human MCM protein.

  4. Structures of the human GTPase (show RACGAP1 ELISA Kits) MMAA and vitamin B12 (show NDUFB3 ELISA Kits)-dependent methylmalonyl-CoA mutase (show MUT ELISA Kits) and insight into their complex formation.

  5. A candidate gene for mutations (deletion, insertion, stop-codon, missense)in cblA patient cells was identified as MMAA on chromosome 4q31.1-2. It encodes a predicted protein of 418 AA.

  6. DNA from 37 cblA patients was analyzed for deleterious mutations in the MMAA gene by DNA sequencing of exons and flanking sequences

  7. Long-term outcome in methylmalonic acidurias is influenced by the underlying genetic defects in MCM/MMAA/MMAB (show MMAB ELISA Kits).

  8. Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group.

  9. Spondylocostal dysostosis associated with MMAA is presented in a young boy.

MMAA Antigen Profile

Antigen Summary

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.

Alternative names and synonyms associated with MMAA

  • methylmalonic aciduria (cobalamin deficiency) type A (Mmaa) Elisa Kit
  • methylmalonic aciduria (cobalamin deficiency) cblA type (MMAA) Elisa Kit
  • solute carrier family 7 (amino acid transporter light chain, L system), member 5 pseudogene 2 (SLC7A5P2) Elisa Kit
  • 2810018E08Rik Elisa Kit
  • AI840684 Elisa Kit
  • cblA Elisa Kit
  • IMAA Elisa Kit
  • MMAA Elisa Kit

Protein level used designations for MMAA

methylmalonic aciduria type A homolog, mitochondrial , methylmalonic aciduria type A protein, mitochondrial

GENE ID SPECIES
109136 Mus musculus
166785 Homo sapiens
387254 Homo sapiens
100009376 Oryctolagus cuniculus
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