免疫原
Synthesized peptide derived from human KCTD7. at AA range: 181-230
特异性
This antibody detects endogenous levels of KCTD7
来源
Polyclonal, Rabbit,IgG
组成（Formulation）
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
稀释比例
WB 1:500-2000;IHC-p 1:50-300; ELISA 2000-20000
纯化工艺（Immunogen）
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
背景（Background）
This gene encodes a member of the potassium channel tetramerization domain-containing protein family. Family members are identified on a structural basis and contain an amino-terminal domain similar to the T1 domain present in the voltage-gated potassium channel. Mutations in this gene have been associated with progressive myoclonic epilepsy-3. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2011],
功能
disease:Defects in KCTD7 are the cause of progressive myoclonic epilepsy type 3 (EPM3) [MIM:611726]. EPM3 is an autosomal recessive, severe, progressive myoclonic epilepsy with early-onset. Multifocal myoclonic seizures begin between 16 and 24 months of age after normal initial development. Neurodegeneration and regression occur with seizure onset. Other features include mental retardation, dysarthria, truncal ataxia, and loss of fine finger movements. EEG shows slow dysrhythmia, multifocal and occasionally generalized epileptiform discharges.,similarity:Contains 1 BTB (POZ) domain.,
其他名称
BTB/POZ domain-containing protein KCTD7
细胞定位
Cell membrane. Cytoplasm, cytosol.
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