TBC1D24
Sign in to saveAlso known as DFNA65, DFNB86, DOORS, EIEE16, FIME, TLDC6, TBC1 domain family member 24, EPRPDC
TBC1 domain family, member 24 is a protein that in humans is encoded by the TBC1D24 gene.
Gene data
TBC1D24- Name
- TBC1 domain family member 24
- Type
- protein-coding
- Aliases
- DEE16, DFNA65, DFNB86, DOORS, EIEE16, EIM, EPRPDC, FIME, TLDC6
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].
via MyGene.info
Wikidata facts
Show 5 more facts
- HomoloGene ID
- 27469
- exact match
- identifiers.org/ncbigene/57465
- genomic end
- 2555735
- genomic start
- 2525147
- cytogenetic location
- 16p13.3
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Article
3 sectionsContents
- Function
- References
- Further reading
TBC1 domain family, member 24 is a protein that in humans is encoded by the TBC1D24 gene.
== Function ==