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Browse our anti-MMAA (MMAA) Antibodies

Full name:
anti-Methylmalonic Aciduria (Cobalamin Deficiency) CblA Type Antibodies (MMAA)
On www.antibodies-online.com are 15 Methylmalonic Aciduria (Cobalamin Deficiency) CblA Type (MMAA) Antibodies from 1 different suppliers available. A total of 16 MMAA products are currently listed.
Synonyms:
cblA
list all antibodies Gene Name GeneID UniProt
MMAA 166785 Q8IVH4
MMAA    
MMAA    

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More Antibodies against MMAA Interaction Partners

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

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

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

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

  4. 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.

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

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

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

  8. 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) cblA type (MMAA) antibody
  • cblA antibody

Protein level used designations for MMAA

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

GENE ID SPECIES
166785 Homo sapiens
100009376 Oryctolagus cuniculus
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