ELMO domain-containing protein 3 (ELMOD3)

ELMO domain-containing protein 3 (ELMOD3) is a member of the ELMO protein family, characterized by the presence of an ELMO/CED-12 domain and functions primarily as a GTPase-activating protein (GAP) for ARF family GTPases, notably ARL2[1][2][3]. ELMOD3 is involved in the regulation of cytoskeletal architecture, particularly in actin-rich structures like stereocilia in cochlear hair cells, and is essential for proper cellular functions such as vesicular trafficking, polarity establishment, and ciliogenesis[1][2]. Loss-of-function mutations, such as the p.Leu265Ser substitution in the ELMO domain, are associated with a severe form of autosomal recessive nonsyndromic deafness (DFNB88), likely due to disrupted actin-cytoskeletal and vesicle trafficking regulation in inner ear sensory cells[1]. ELMOD3 also interacts with proteins such as Flotillin2 and Rab1A, mediating pathways crucial for lumen and membrane formation in various model organisms[2]. Currently, there are no drugs approved or clinical trials targeting ELMOD3, and its therapeutic potential remains largely unexplored.

Other names

ELMOD3RBED1RBM29DFNA81DFNB88FLJ21977PP4068LST3RNA-binding motif protein 29RNA-binding motif and ELMO domain-containing protein 1organic anion transporter LST-3bdeafness autosomal recessive 88

GTPase activation modulation (potential mechanism for drugs, but none confirmed in clinical use)