| UniProt Protein Function: | TBC1D24: a putative GTPase activating protein for Rab family protein(s).Protein type: GAPs; Cell development/differentiation; GAPs, RabChromosomal Location of Human Ortholog: 16p13.3Cellular Component: cytoplasm; neuromuscular junction; terminal buttonMolecular Function: GTPase activator activity; protein bindingBiological Process: neurite development; positive regulation of GTPase activityDisease: Deafness, Autosomal Dominant 65; Deafness, Autosomal Recessive 86 |
| UniProt Protein Details: | |
| NCBI 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] |
| UniProt Code: | Q9ULP9 |
| NCBI GenInfo Identifier: | 312283691 |
| NCBI Gene ID: | 57465 |
| NCBI Accession: | NP_001186036.1 |
| UniProt Secondary Accession: | Q9ULP9,Q2KJ08, A0JNW3, B9A6M6 |
| UniProt Related Accession: | Q9ULP9 |
| Molecular Weight: | 62,318 Da |
| NCBI Full Name: | TBC1 domain family member 24 isoform 1 |
| NCBI Synonym Full Names: | TBC1 domain family member 24 |
| NCBI Official Symbol: | TBC1D24Â Â |
| NCBI Official Synonym Symbols: | FIME; DOORS; TLDC6; DFNA65; DFNB86; EIEE16Â Â |
| NCBI Protein Information: | TBC1 domain family member 24 |
| UniProt Protein Name: | TBC1 domain family member 24 |
| UniProt Synonym Protein Names: | |
| Protein Family: | TBC1 domain family |
| UniProt Gene Name: | TBC1D24Â Â |
| UniProt Entry Name: | TBC24_HUMAN |
