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KCTD7 encodes a member of the potassium channel tetramerization domain-containing protein family. Additionally we are shipping Potassium Channel Tetramerisation Domain Containing 7 Proteins (9) and Potassium Channel Tetramerisation Domain Containing 7 Kits (5) and many more products for this protein.
Showing 10 out of 27 products:
Chicken Polyclonal KCTD7 Primary Antibody for WB - ABIN2776287
Van Bogaert, Azizieh, Désir, Aeby, De Meirleir, Laes, Christiaens, Abramowicz: Mutation of a potassium channel-related gene in progressive myoclonic epilepsy. in Annals of neurology 2007
KCTD7 expression hyperpolarizes the cell membrane and reduces the excitability of transfected neurons in patch clamp experiments.
This study identified that novel KCTD7 mutation in patients with progressive myoclonus epilepsy with ataxia (show USP14 Antibodies).
The KCTD7 gene, previously associated with progressive myoclonus epilepsies (PMEs) in a single inbred family, was screened for mutations in 18 Turkish PME (show CSTB Antibodies) patients.
this study clearly demonstrates that KCTD7 mutations also cause a rare, infantile-onset NCL (show CLN5 Antibodies) subtype designated as CLN14.
We found a C to T mutation in exon 2 of the potassium channel (show KCNAB2 Antibodies) tetramerization domain containing 7 gene(KCTD7)in a progressive myoclonic epilepsy family affecting a highly conserved segment of the predicted protein changing an arginine codon to a stop.
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.
BTB/POZ domain-containing protein KCTD7
, potassium channel tetramerisation domain containing 7