TBC1D24 : TBC1 domain family member 24

Description

The TBC1D24 (TBC1 domain family member 24) is a protein-coding gene located on chromosome 16.

The TBC1D24 gene provides instructions for making a protein whose specific function in the cell is unclear. Studies suggest the protein may have several roles in cells. The TBC1D24 protein belongs to a group of proteins that are involved in the movement (transport) of vesicles, which are small sac-like structures that transport proteins and other materials within cells. Research suggests that the TBC1D24 protein may also help cells respond to oxidative stress. Oxidative stress occurs when unstable molecules called free radicals accumulate to levels that can damage or kill cells. Studies indicate that the TBC1D24 protein is active in a variety of organs and tissues; it is particularly active in the brain and likely plays an important role in normal brain development. The TBC1D24 protein is also active in specialized structures called stereocilia. In the inner ear, stereocilia project from certain cells called hair cells. The stereocilia bend in response to sound waves, which is critical for converting sound waves to nerve impulses.

TBC1D24 may act as a GTPase-activating protein for Rab family proteins (PMID:20727515, PMID:20797691). It is involved in neuronal projection development, possibly by negatively regulating ARF6 function (PMID:20727515). It also plays a role in regulating synaptic vesicle trafficking (PMID:31257402).

TBC1D24 is also known as DEE16, DFNA65, DFNB86, DOORS, EIEE16, EIM, EPRPDC, FIME, TLDC6.

Associated Diseases

• DOORS syndrome
• Developmental and epileptic encephalopathy 16
• Familial infantile myoclonic epilepsy
• Progressive myoclonic epilepsy with dystonia
• Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
• Myoclonic epilepsy, familial infantile
• Malignant migrating focal seizures of infancy
• Deafness, autosomal dominant 65
• Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp
• Deafness, autosomal recessive 86
• Doors syndrome
• Nonsyndromic hearing loss
• Malignant migrating partial seizures of infancy