Aliases for TBC1D24 Gene
External Ids for TBC1D24 Gene
Previous HGNC Symbols for TBC1D24 Gene
Previous GeneCards Identifiers for TBC1D24 Gene
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]
GeneCards Summary for TBC1D24 Gene
TBC1D24 (TBC1 Domain Family Member 24) is a Protein Coding gene. Diseases associated with TBC1D24 include Epileptic Encephalopathy, Early Infantile, 16 and Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome. Among its related pathways are Vesicle-mediated transport and TBC/RABGAPs. Gene Ontology (GO) annotations related to this gene include GTPase activator activity. An important paralog of this gene is ENSG00000260272.
UniProtKB/Swiss-Prot Summary for TBC1D24 Gene
May act as a GTPase-activating protein for Rab family protein(s) (PubMed:20727515, PubMed:20797691). Involved in neuronal projections development, probably through a negative modulation of ARF6 function (PubMed:20727515).