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TBC1D24 is 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.
Gene Name: | TBC1 domain family, member 24 |
Synonyms: | TBC1D24, FIME, TBC1 domain family, member 24, KIAA1171, TBC1 domain family member 24 |
Target Sequences: | NP_065756.1 Q9ULP9 |
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