TBC1D24, Official Symbol TBC1D24provided by HGNC Official Full Name TBC1 domain family member 24provided by HGNC Primary source HGNC:HGNC:29203 See related Ensembl:ENSG00000162065 MIM:613577; AllianceGenome:HGNC:29203 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as EIM; 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] Expression Ubiquitous expression in brain (RPKM 4.4), kidney (RPKM 3.5) and 25 other tissues See more Orthologs mouse all