ATPase family AAA domain-containing protein 3A (ATAD3A) (ATAD3A)

ATPase family AAA domain-containing protein 3A (ATAD3A) is a critical mitochondrial membrane protein involved in the structural organization of mitochondrial DNA (mtDNA) nucleoids and the regulation of mitochondrial dynamics (UniProt Q9NVI7). It functions as a bridge between the inner and outer mitochondrial membranes, facilitating cholesterol transport and maintaining mitochondrial network integrity (PubMed: 27153398). Mutations in the ATAD3A gene, including point mutations and genomic rearrangements, are linked to Harel-Yoon syndrome (HARE), a severe neurodevelopmental disorder characterized by hypotonia and peripheral neuropathy (PubMed: 27153398). In oncology, ATAD3A is frequently overexpressed and serves as a driver of tumor progression and chemoresistance in cancers such as lung, breast, and prostate cancer (PubMed: 28611234). Targeting ATAD3A mRNA using antisense oligonucleotides (ASOs) or RNA interference (RNAi) is an emerging therapeutic strategy aimed at reducing toxic protein levels in genetic disorders or inhibiting cancer cell survival (PubMed: 32814901). However, therapeutic development must account for the high homology between ATAD3A and its paralogs, ATAD3B and ATAD3C, to avoid unintended off-target effects.

Other names

AAA+ ATPase family member 3AATAD3Borrelia burgdorferi-associated protein 3TOB3

mRNA degradation and translation inhibition