Gene Symbol | TBC1D24 |
Entrez Gene ID | 57465 |
Full Name | TBC1 domain family member 24 |
Synonyms | DFNA65,DFNB86,DOORS,EIEE16,FIME,TLDC6 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Myoclonic epilepsy, infantile, familial, 605021 (3); Epileptic encephalopathy, early infantile, 16, 615338 (3); DOOR syndrome, 220500 (3); Deafness , autosomal recessive 86, 614617 (3); Deafness, autosomal dominant 65, 616044 (3) |