MMAB抗体—艾普蒂

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     Gel: 12%SDS-PAGE, Lysate: 40 μg, Lane 1-4: MCF-7, 293T, LO2 and HepG2 cell lysates, Primary antibody: P10332(MMAB Antibody) at dilution 1/1400, Secondary antibody: Goat anti rabbit IgG at 1/5000 dilution, Exposure time: 30 seconds    

  
  

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     The image is immunohistochemistry of paraffin-embedded Human liver cancer tissue using P10332(MMAB Antibody) at dilution 1/65. (Original magnification: ×200)    

  
  

MMAB antibodies target methylmalonic acidemia type B (MMAB), a rare inherited metabolic disorder caused by mutations in the *MMAB* gene. This gene encodes the mitochondrial enzyme cobalamin adenosyltransferase (MMAB), which converts vitamin B12 (cobalamin) into its active cofactor form, adenosylcobalamin (AdoCbl). AdoCbl is essential for the function of methylmalonyl-CoA mutase (MUT), a key enzyme in propionate metabolism that converts methylmalonyl-CoA to succinyl-CoA. Defects in MMAB disrupt this pathway, leading to toxic accumulation of methylmalonic acid and related metabolites, resulting in life-threatening complications such as metabolic acidosis, neurological impairment, and multi-organ dysfunction.

MMAB antibodies are critical tools in research and diagnostics. They enable detection and quantification of MMAB protein expression in patient samples, aiding in confirming MMA type B diagnoses and differentiating it from other cobalamin metabolism disorders. Additionally, these antibodies support mechanistic studies to explore disease pathogenesis, evaluate therapeutic interventions (e.g., gene therapy, enzyme replacement), and monitor treatment efficacy. Their development underscores the importance of understanding molecular pathways in rare diseases and advancing precision medicine approaches for MMA patients.