Isoform 2 of V-type proton ATPase 116 kDa subunit a 1

# Summary: ATP6V0A1 (V-type Proton ATPase 116 kDa Subunit a 1)

ATP6V0A1 encodes the V-ATPase 116 kDa subunit a 1, a core component of the vacuolar H+-ATPase complex (UniProt: Q93050-1). This subunit is essential for proton translocation and acidification of intracellular compartments, including lysosomes and secretory vesicles, which are critical for cellular homeostasis and protein degradation.

V-ATPases are widely expressed across tissues and play central roles in vesicular trafficking, autophagy, and lysosomal function. Dysfunction of these complexes has been implicated in neurological conditions through disrupted cellular clearance and metabolic processes. No primary disease associations are documented in the UniProt record for ATP6V0A1.

ATP6V0A1 is associated with Alzheimer's Disease risk. Proteomics analysis of post-mortem AD brain tissue versus age-matched controls revealed downregulation of this protein (mean log2FC: −0.66, Chaparral AD proteomics). The reduction in V-ATPase subunit expression may compromise lysosomal and autophagosomal function, potentially contributing to impaired clearance of amyloid-beta and tau pathology characteristic of AD pathogenesis.