ELMOD3 (ELMO domain containing 3) is a GTPase-activating protein (GAP) that primarily regulates ARL2 and ARF family GTPases 1. The protein localizes to the Golgi apparatus and cilia, where it regulates ciliogenesis and ciliary protein trafficking 2. ELMOD3 functionally associates with the actin cytoskeleton in cochlear hair cell stereocilia 1, where it is essential for maintaining proper F-actin dynamics and stereocilia morphology 3. Pathogenic variants in ELMOD3 cause both autosomal dominant and recessive nonsyndromic hearing loss (DFNA81 and DFNB88) 41. The c.512A>G (p.His171Arg) missense variant produces unstable protein with abnormal subcellular localization and accelerated protein degradation, leading to late-onset progressive hearing loss 4. Elmod3 knockout mice exhibit progressive hearing loss from 2 months of age with shortened, fused inner hair cell stereocilia and outer hair cell degeneration 3. Transcriptomic analysis of patient-derived iPSCs carrying the ELMOD3 mutation reveals dysregulation of genes involved in sensory epithelial development, intermediate filament organization, and ion transport 5. Beyond hearing, copy number deletions encompassing ELMOD3 have been associated with autism spectrum disorder through generation of chimeric ELMOD3-SH2D6 transcripts 6. Recent evidence suggests ELMOD3 may promote gastric cancer proliferation through β-catenin signaling 7, indicating broader pathogenic roles beyond auditory function.