Recombinant Tetraodon nigroviridis ATP synthase subunit a (mt-atp6)
Description
Functional Role in Oxidative Phosphorylation
The mt-atp6 protein is a core component of ATP synthase (Complex V), which catalyzes the final step of oxidative phosphorylation. Specifically:
-
Proton Translocation: Subunit a facilitates proton movement across the mitochondrial inner membrane, creating a proton gradient .
-
ATP Synthesis: The energy from proton flow drives the conversion of ADP to ATP via the F1 subunit .
Key Interactions
Functional Studies in Yeast Models
Mutations in mt-atp6 linked to mitochondrial diseases (e.g., Leigh syndrome, NARP) have been studied in yeast systems:
These studies highlight conserved residues critical for subunit a function .
Clinical Relevance and Pathogenic Variants
Pathogenic mt-atp6 variants often disrupt ATP synthase assembly or proton channel efficiency, leading to:
-
ATP Synthesis Deficits: Reduced ATP production due to impaired proton flow .
-
Mitochondrial Membrane Potential Abnormalities: Increased or decreased membrane potential, reflecting proton leak or channel dysfunction .
For example:
-
m.8993T>G (p.L156R): Linked to NARP syndrome; causes increased membrane potential and oligomycin resistance .
-
m.9185T>C (p.L308P): Associated with Leigh syndrome; reduces ATP hydrolysis and impairs complex assembly .
Key Research Challenges
-
Heteroplasmy Thresholds: Pathogenic variants require high heteroplasmy (>60–80%) to manifest clinically .
-
Biochemical Heterogeneity: No universal biomarker exists; ATP synthesis rates, membrane potential, and complex assembly vary across mutations .
-
Therapeutic Targets: Modulating proton flow or enhancing ATP synthase efficiency remains an active research area .
Product Specs
Note: We prioritize shipping the format currently in stock. However, if you have specific format requirements, please indicate them when placing your order, and we will fulfill your request.
Note: All our proteins are shipped with standard blue ice packs. If you require dry ice shipping, please communicate with us in advance, as additional fees will apply.
Generally, the shelf life of the liquid form is 6 months at -20°C/-80°C. The shelf life of the lyophilized form is 12 months at -20°C/-80°C.
Target Background
STRING: 99883.ENSTNIP00000000835
