产品名称
KCTD7 Rabbit Polyclonal Antibody
别名
BTB/POZ domain-containing protein KCTD7
存储缓冲液
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% New type preservative N.
Human Gene Link
http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=154881
Human Swissprot No.
Q96MP8
Human Swissprot Link
http://www.uniprot.org/uniprotkb/Q96MP8/entry
Mouse Swissprot No.
Q8BJK1
Mouse Swissprot Link
http://www.uniprot.org/uniprot/Q8BJK1
免疫原
Synthesized peptide derived from human KCTD7. at AA range: 181-230
特异性
This antibody detects endogenous levels of KCTD7
稀释度
WB 1:500-2000;IHC-p 1:50-300; ELISA 2000-20000
宿主
Polyclonal, Rabbit,IgG
背景介绍
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],
细胞定位
Cell membrane. Cytoplasm, cytosol.
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.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
