Entrez 57465 | Ensembl ENSG00000162065 | |
Aliases TBC1D24, DFNA65, DFNB86, DOORS, EIEE16, FIME, TLDC6, TBC1 domain family member 24 External IDs MGI: 2443456 HomoloGene: 27469 GeneCards: TBC1D24 | ||
Function
This gene encodes a protein with a conserved domain, referred to as the TBC domain, characteristic of proteins which interact with GTPases. TBC domain proteins may serve as GTPase-activating proteins for a particular group of GTPases, the Rab (Ras-related proteins in brain) small GTPases which are involved in the regulation of membrane trafficking. Mutations in this gene are associated with familial infantile myoclonic epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2011].
Mutations in TBC1D24 cause Hereditary hearing loss .Azaiez, H; Booth, K. T.; Bu, F; Huygen, P; Shibata, S; Shearer, A. E.; Kolbe, D; Meyer, N; Black-Ziegelbein, E. A.; Smith, R. J. (2014). "TBC1D24 Mutation Causes Autosomal Dominant Non-Syndromic Hearing Loss". Human Mutation. 35 (7): 819–23. doi:10.1002/humu.22557. PMID 24729539.