TBC1D24 抗体
(TBC1 Domain Family, Member 24 (TBC1D24))
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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10 results
TBC1D24
适用: 人, 小鼠, 大鼠, 豚鼠, 马, Cow, 犬, 兔
WB
宿主: 兔
Polyclonal
unconjugated
1 image
1 reference
Latest Publications for our TBC1D24 抗体
: "The phenotypic landscape of a Tbc1d24 mutant mouse includes convulsive seizures resembling human early infantile epileptic encephalopathy." in: Human molecular genetics, Vol. 28, Issue 9, pp. 1530-1547, (2019) (PubMed).: "Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations." in: American journal of medical genetics. Part A, Vol. 170, Issue 12, pp. 3207-3214, (2016) (PubMed).
Aliases for TBC1D24 抗体
TBC1 domain family, member 24 (Tbc1d24) 抗体ATPase H+ transporting V0 subunit c (ATP6V0C) 抗体
TBC1 domain family member 24 (TBC1D24) 抗体
TBC1 domain family member 24 L homeolog (tbc1d24.1.L) 抗体
9630033P11 抗体
C530046L02Rik 抗体
EIEE16 抗体
FIME 抗体
mKIAA1171 抗体
RGD1306143 抗体
tbc1d24 抗体
TLDC6 抗体
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