TBC1 domain family member 24 (TBC1D24)

TBC1 domain family member 24 (TBC1D24) encodes a cytosolic protein highly expressed in the brain and involved in vesicular transport, especially in neurons. It contains a TBC domain (related to Rab-GTPase activating proteins, although most studies indicate it lacks RabGAP activity) and a TLDc domain of unknown function. TBC1D24 interacts with the small GTPase ARF6, involved in regulating membrane trafficking and synaptic vesicle exchange, and participates in neuronal migration, polarity, and maturation. Pathogenic mutations in TBC1D24 disrupt its interactions and functions, resulting in a spectrum of neurological disorders, including early-onset epilepsies, intellectual disability, DOORS syndrome, and forms of inherited sensorineural deafness. The protein is also active in the inner ear's stereocilia, vital for auditory processes. There are currently no drugs specifically targeting TBC1D24, and therapy for associated conditions is symptomatic and supportive. Detection of TBC1D24 mutations is a genetic biomarker for several rare disorders.

Other names

TBC1D24KIAA1171TLDC6Deafness, autosomal dominant 65DOORS syndrome geneSkywalker homolog (Drosophila)DFNB86DFNA65EIEE16 (Epileptic Encephalopathy)DEE16TBC/LysM-associated domain containing 6