TBC1D24
TBC1 domain family, member 24 is a protein that in humans is encoded by the TBC1D24 gene. [5]
Function
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].
Mutations in TBC1D24 cause Hereditary hearing loss .Azaiez, H; Booth, K. T.; Bu, F; Huygen, P; Shibata, S; Shearer, A. E.; Kolbe, D; Meyer, N; Black-Ziegelbein, E. A.; Smith, R. J. (2014). "TBC1D24 Mutation Causes Autosomal Dominant Non-Syndromic Hearing Loss". Human Mutation. 35 (7): 819–23. PMID 24729539. doi:10.1002/humu.22557.
References
- 1 2 3 GRCh38: Ensembl release 89: ENSG00000162065 - Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000036473 - Ensembl, May 2017
- ↑ "Human PubMed Reference:".
- ↑ "Mouse PubMed Reference:".
- ↑ "Entrez Gene: TBC1 domain family, member 24". Retrieved 2014-04-29.
Further reading
- Hirosawa, M.; Nagase, T.; Ishikawa, K.; Kikuno, R.; Nomura, N.; Ohara, O. (1999). "Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain". DNA research : an international journal for rapid publication of reports on genes and genomes. 6 (5): 329–336. PMID 10574461. doi:10.1093/dnares/6.5.329.
- Fukuda, M (2011). "TBC proteins: GAPs for mammalian small GTPase Rab?". Bioscience Reports. 31 (3): 159–68. PMID 21250943. doi:10.1042/BSR20100112.
- Corbett, M. A.; Bahlo, M; Jolly, L; Afawi, Z; Gardner, A. E.; Oliver, K. L.; Tan, S; Coffey, A; Mulley, J. C.; Dibbens, L. M.; Simri, W; Shalata, A; Kivity, S; Jackson, G. D.; Berkovic, S. F.; Gecz, J (2010). "A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24". The American Journal of Human Genetics. 87 (3): 371–5. PMC 2933342
. PMID 20797691. doi:10.1016/j.ajhg.2010.08.001. - Ishibashi, K.; Kanno, E.; Itoh, T.; Fukuda, M. (2009). "Identification and characterization of a novel Tre-2/Bub2/Cdc16 (TBC) protein that possesses Rab3A-GAP activity". Genes to Cells. 14 (1): 41–52. PMID 19077034. doi:10.1111/j.1365-2443.2008.01251.x.
- Falace, A; Filipello, F; La Padula, V; Vanni, N; Madia, F; De Pietri Tonelli, D; De Falco, F. A.; Striano, P; Dagna Bricarelli, F; Minetti, C; Benfenati, F; Fassio, A; Zara, F (2010). "TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy". The American Journal of Human Genetics. 87 (3): 365–70. PMC 2933335 . PMID 20727515. doi:10.1016/j.ajhg.2010.07.020.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.