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Methylmalonic Aciduria (Cobalamin Deficiency) CblB Type (MMAB) ELISA Kits

MMAB encodes a protein that catalyzes the final step in the conversion of vitamin B(12) into adenosylcobalamin (AdoCbl), a vitamin B12-containing coenzyme for methylmalonyl-CoA mutase. Additionally we are shipping Methylmalonic Aciduria (Cobalamin Deficiency) CblB Type Antibodies (31) and Methylmalonic Aciduria (Cobalamin Deficiency) CblB Type Proteins (10) and many more products for this protein.

list all ELISA KIts Gene Name GeneID UniProt
Anti-Human MMAB MMAB 326625 Q96EY8
Anti-Mouse MMAB MMAB 77697 Q9D273
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More ELISA Kits for Methylmalonic Aciduria (Cobalamin Deficiency) CblB Type Interaction Partners

Human Methylmalonic Aciduria (Cobalamin Deficiency) CblB Type (MMAB) interaction partners

  1. MMAB mutations, including one novel nonsense mutation (c.12 C>A [p.C4X]), were identified in all members of the cblB cohort.

  2. Pathogenicity of the human truncation mutant results from its inability to sequester AdoCbl for direct transfer to methylmalonyl-CoA mutase (show MUT ELISA Kits), resulting in holoenzyme formation.

  3. c.584G>A, c.349-1G>C, and c.290G>A mutations affect the splicing process of ATR.

  4. These data suggest MMAB is the most likely gene influencing high-density lipoprotein-cholesterol levels at MMAB-MVK (show MVK ELISA Kits) locus.

  5. Characterization of ligand-binding by MMAB provides insight into the mechanism of cobalamin adenosylation and the effect of patient mutations in the inherited disorder

  6. report the identification of ATR cDNA as well as the corresponding gene; ATR expression is altered in cell lines derived from cblB methylmalonyl aciduria patients; propose that inborn errors in the ATR gene identified here result in methylmalonyl aciduria

  7. Results describe two common polymorphic variants of ATP:cob(I)alamin adenosyltransferase that are found in normal individuals, and their interactions with methionine synthase reductase (show MTRR ELISA Kits).

  8. Mutations in methylmalonic aciduria type B protein is associated with methylmalonic acidemia

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

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

Cow (Bovine) Methylmalonic Aciduria (Cobalamin Deficiency) CblB Type (MMAB) interaction partners

  1. report the isolation of an ATR cDNA, from a bovine liver library, by complementation of an ATR-deficient Salmonella mutant.

Mouse (Murine) Methylmalonic Aciduria (Cobalamin Deficiency) CblB Type (MMAB) interaction partners

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

Methylmalonic Aciduria (Cobalamin Deficiency) CblB Type (MMAB) Antigen Profile

Antigen Summary

This gene encodes a protein that catalyzes the final step in the conversion of vitamin B(12) into adenosylcobalamin (AdoCbl), a vitamin B12-containing coenzyme for methylmalonyl-CoA mutase. Mutations in the gene are the cause of vitamin B12-dependent methylmalonic aciduria linked to the cblB complementation group. Alternatively spliced transcript variants have been found.

Gene names and symbols associated with MMAB

  • methylmalonic aciduria (cobalamin deficiency) cblB type (MMAB) antibody
  • methylmalonic aciduria (cobalamin deficiency) type B homolog (human) (Mmab) antibody
  • 9130222L19Rik antibody
  • ATR antibody
  • cblB antibody
  • cob antibody

Protein level used designations for MMAB

ATP:cob(I)alamin adenosyltransferase , ATP:corrinoid adenosyltransferase , aquocob(I)alamin vitamin B12s adenosyltransferase , cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial , methylmalonic aciduria type B protein , cob(I)alamin adenosyltransferase , methylmalonic aciduria (cobalamin deficiency) type B , methylmalonic aciduria type B homolog , ATP:Cob(I)alamin Adenosyltransferase

GENE ID SPECIES
326625 Homo sapiens
617636 Bos taurus
77697 Mus musculus
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