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TBC1D24 TBC1 domain family member 24

Gene ID: 57465, updated on 19-Jul-2021
Gene type: protein coding
Also known as: FIME; DEE16; DOORS; TLDC6; DFNA65; DFNB86; EIEE16; EPRPDC

Summary

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]

Genomic context

Location:
16p13.3
Sequence:
Chromosome: 16; NC_000016.10 (2475104..2509669)
Total number of exons:
10

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