Isoform 2 of ATPase family AAA domain-containing protein 3A

ATAD3A is an ATPase family AAA domain-containing protein encoded by the *ATAD3A* gene in humans (UniProt: Q9NVI7-2). The canonical isoform 2 consists of 586 amino acids with a molecular mass of approximately 66 kDa. AAA domain-containing proteins typically function in ATP-dependent cellular processes, though specific molecular functions are not detailed in the UniProt record for this entry.

ATAD3A is expressed in human tissues and subcellular compartments, as evidenced by its detection across multiple fractions in proteomics studies. UniProt provides no curated disease associations in its annotation.

In Alzheimer's disease, ATAD3A isoform 2 is significantly down-regulated in post-mortem AD brain tissue compared to age-matched controls (Chaparral AD proteomics). The protein showed a mean log2 fold-change of −0.417 in a TMT-labeled quantitative proteomics experiment analyzing four subcellular fractions (P2, P3, S2, S3) from human brain samples. This down-regulation suggests reduced abundance of this AAA-ATPase in AD pathology and may indicate altered mitochondrial or protein-remodeling dynamics in diseased tissue.