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KCTD7 encodes a member of the potassium channel tetramerization domain-containing protein family. De plus, nous expédions Potassium Channel Tetramerisation Domain Containing 7 Protéines (9) et beaucoup plus de produits pour cette protéine.
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KCTD7 expression hyperpolarizes the cell membrane and reduces the excitability of transfected neurons in patch clamp experiments.
KCTD7 has an impact on K+ fluxes, neurotransmitter synthesis and neuronal function, and that malfunction of the encoded protein may lead to progressive myoclonus epilepsy.
reviews the phenotype of progressive myoclonic epilepsy associated with KCTD7 mutations [review]
This study identified that novel KCTD7 mutation in patients with progressive myoclonus epilepsy with ataxia.
The KCTD7 gene, previously associated with progressive myoclonus epilepsies (PMEs) in a single inbred family, was screened for mutations in 18 Turkish PME (Montrer CSTB Anticorps) patients.
this study clearly demonstrates that KCTD7 mutations also cause a rare, infantile-onset NCL (Montrer CLN5 Anticorps) subtype designated as CLN14.
We found a C to T mutation in exon 2 of the potassium channel (Montrer KCNAB2 Anticorps) 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