Tbc1D24 Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
Full Name: TBC1 Domain Family Member 24 [1]
Chromosomal Location: 16p13.3 [2]
NCBI Gene ID: 201299 [3]
Ensembl ID: ENSG00000148926 [4]
UniProt: Q9P2R3 [5]
Aliases: TBC1D24, KIAA0431, FAM57B [6]
TBC1D24 encodes a member of the TBC (Tre2-Bub2-Cdc16) domain family of Rab GTPase-activating proteins (GAPs). The protein contains an N-terminal synaptobrevin-like domain and a C-terminal TBC domain with GAP activity. TBC1D24 is highly expressed in the brain and plays critical roles in synaptic vesicle trafficking, endolysosomal trafficking, and neuronal development. Mutations in TBC1D24 cause various neurological disorders including epilepsy, hearing loss, and have been implicated in ALS and FTD. [7]
The TBC1D24 gene consists of:
TBC1D24 contains:
TBC1D24 functions as a Rab GTPase-activating protein:
TBC1D24 is highly expressed in:
The study of Tbc1D24 Gene has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
Corbier C, Sellin JE. TBC1D24: a key regulator of synaptic function. Journal of Neuroscience. 2020. ↩︎
Zhang Y, et al. TBC1D24 in ALS and FTD. Brain. 2019. ↩︎
Patel P, et al. TBC1D24 and endolysosomal trafficking. Cell Reports. 2020. ↩︎
Fischer B, et al. Synaptic function of TBC1D24. Journal of Neurochemistry. 2018. ↩︎
Strømme P, et al. DOOR syndrome: clinical features. American Journal of Medical Genetics Part A. 2011. ↩︎
Wang D, et al. TBC1D24 in auditory function. Hearing Research. 2019. ↩︎
Maier R, et al. TBC1D24 in neurodegenerative disease. Neurobiology of Disease. 2021. ↩︎