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].
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Tona, Chen, Nakano, Reyes, Petralia, Wang, Starost, Wafa, Morell, Cravedi, du Hoffmann, Miyoshi, Munasinghe, Fitzgerald, Chudasama, Omori, Pierpaoli, Banfi, Dong, Belyantseva, Friedman: "The phenotypic landscape of a Tbc1d24 mutant mouse includes convulsive seizures resembling human early infantile epileptic encephalopathy." dans: Human molecular genetics, Vol. 28, Issue 9, pp. 1530-1547, (2019) (PubMed).
Lozano, Herman, Rothfuss, Rieger, Bayrak-Toydemir, Aprile, Fruscione, Zara, Fassio: "Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations." dans: American journal of medical genetics. Part A, Vol. 170, Issue 12, pp. 3207-3214, (2016) (PubMed).
Synonymes et noms alternatifs relatifs à TBC1D24
TBC1 domain family, member 24 (Tbc1d24), ATPase H+ transporting V0 subunit c (ATP6V0C), TBC1 domain family member 24 (TBC1D24), TBC1 domain family member 24 L homeolog (tbc1d24.1.L), 9630033P11, C530046L02Rik, EIEE16, FIME, mKIAA1171, RGD1306143, tbc1d24, TLDC6