Mouse Monoclonal ETHE1 Antibody

The ETHE1 (ethylmalonic encephalopathy 1) antibody is a tool used to study the ETHE1 protein, a mitochondrial sulfur dioxygenase critical for sulfide metabolism. ETHE1 catalyzes the oxidation of hydrogen sulfide (H₂S) to sulfite, preventing toxic H₂S accumulation. Mutations in the ETHE1 gene cause ethylmalonic encephalopathy (EE), a rare autosomal recessive disorder characterized by neurodevelopmental regression, chronic diarrhea, and vasculopathy. EE patients exhibit impaired sulfide detoxification, leading to systemic H₂S buildup and mitochondrial dysfunction. The ETHE1 antibody aids in detecting protein expression levels, localization, and post-translational modifications in research models, helping elucidate disease mechanisms. It is widely used in techniques like Western blotting, immunohistochemistry, and immunofluorescence to assess ETHE1 deficiency in patient-derived cells or animal models. Studies using this antibody have linked ETHE1 dysfunction to oxidative stress, disrupted energy metabolism, and cellular damage. Additionally, it supports investigations into therapeutic strategies, such as gene therapy or H₂S-scavenging compounds. The antibody’s specificity ensures accurate identification of ETHE1 in mitochondrial extracts, reinforcing its role in advancing understanding of sulfur metabolism disorders and mitochondrial pathologies.