ATP6V1A

Description

The ATP6V1A gene encodes the A subunit of the vacuolar H+-ATPase (V-ATPase), a proton pump essential for maintaining the acidic pH of intracellular compartments. V-ATPases are found in various cellular structures, including lysosomes, endosomes, and secretory vesicles, and are crucial for numerous cellular processes such as protein sorting, membrane trafficking, and nutrient uptake. The A subunit plays a key role in the assembly and function of the V-ATPase complex.

Associated Diseases

• **Hereditary Inclusion Body Myopathy (HIBM)**: Mutations in ATP6V1A are linked to HIBM, a rare and severe muscle disease characterized by muscle weakness, atrophy, and the accumulation of inclusion bodies in muscle fibers.
• **Charcot-Marie-Tooth Disease (CMT)**: Certain mutations in ATP6V1A can contribute to CMT, a group of inherited disorders affecting the peripheral nerves.
• **Osteogenesis Imperfecta (OI)**: ATP6V1A mutations have been associated with some forms of OI, a genetic disorder characterized by bone fragility.

Did you know?

The ATP6V1A gene is highly conserved across different species, suggesting its fundamental importance in cellular function.