TBC1D24
Protein-coding gene in the species Homo sapiens
From Wikipedia, the free encyclopedia
TBC1 domain family, member 24 is a protein that in humans is encoded by the TBC1D24 gene.[5]
AliasesTBC1D24, DFNA65, DFNB86, DOORS, EIEE16, FIME, TLDC6, TBC1 domain family member 24, EPRPDC, DEE16
External IDsOMIM: 613577; MGI: 2443456; HomoloGene: 27469; GeneCards: TBC1D24; OMA:TBC1D24 - orthologs
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| Aliases | TBC1D24, DFNA65, DFNB86, DOORS, EIEE16, FIME, TLDC6, TBC1 domain family member 24, EPRPDC, DEE16 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 613577; MGI: 2443456; HomoloGene: 27469; GeneCards: TBC1D24; OMA:TBC1D24 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Function
This gene encodes a protein with a conserved domain, 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.
Mutations in TBC1D24 cause Hereditary hearing loss.[6]
