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Potassium voltage gated channel, Shaw-related subfamily, member 3

Kv3.3, KCNC3, SCA13
The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of four subfamilies. Based on sequence similarity, this gene is similar to one of these subfamilies, namely the Shaw subfamily. The protein encoded by this gene belongs to the delayed rectifier class of channel proteins and is an integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: Kv1.4, FasT, CAN, HAD, Kv2.1
Papers on Kv3.3
Kv3.3 potassium channels and spinocerebellar ataxia.
Kaczmarek et al., New Haven, United States. In J Physiol, Nov 2015
Kv3.3 differs from other closely related channels in that human mutations in the gene encoding Kv3.3 (KCNC3) result in a unique neurodegenerative disease, termed spinocerebellar ataxia type 13 (SCA13).
De novo point mutations in patients diagnosed with ataxic cerebral palsy.
Németh et al., Curitiba, Brazil. In Brain, Jul 2015
They were investigated using either targeted next generation sequencing or trio-based exome sequencing and were found to have mutations in three different genes, KCNC3, ITPR1 and SPTBN2.
Deficiency of the miR-29a/b-1 cluster leads to ataxic features and cerebellar alterations in mice.
De Strooper et al., Leuven, Belgium. In Neurobiol Dis, 2015
At the protein level, however, the voltage-gated potassium channel Kcnc3 (Kv3.3) was significantly up-regulated in the cerebella of the miR-29a/b knockout mice.
Spinocerebellar ataxia 28: a novel AFG3L2 mutation in a German family with young onset, slow progression and saccadic slowing.
Bürk et al., Lübeck, Germany. In Cerebellum Ataxias, 2014
METHODS: After excluding repeat expansions in the genes for SCA1-3, 6-8, 10, 12, and 17, Sanger sequencing of the coding regions of TTBK2 (SCA11), KCNC3 (SCA13), PRKCG (SCA14), FGF14 (SCA27) and AFG3L2 (SCA28) was performed.
Action potential processing in a detailed Purkinje cell model reveals a critical role for axonal compartmentalization.
D'Angelo et al., Pavia, Italy. In Front Cell Neurosci, 2014
In order to account for the numerous ionic mechanisms involved (at present including Nav1.6, Cav2.1, Cav3.1, Cav3.2, Cav3.3, Kv1.1, Kv1.5, Kv3.3, Kv3.4,
Functional analysis helps to define KCNC3 mutational spectrum in Dutch ataxia cases.
Verbeek et al., Groningen, Netherlands. In Plos One, 2014
Spinocerebellar ataxia type 13 (SCA13) is an autosomal dominantly inherited neurodegenerative disorder of the cerebellum caused by mutations in the voltage gated potassium channel KCNC3.
KCNC3(R420H), a K(+) channel mutation causative in spinocerebellar ataxia 13 displays aberrant intracellular trafficking.
Waters et al., Gainesville, United States. In Neurobiol Dis, 2014
Spinocerebellar ataxia 13 (SCA13) is an autosomal dominant disease resulting from mutations in KCNC3 (Kv3.3), a voltage-gated potassium channel.
Novel phenotype associated with a mutation in the KCNA1(Kv1.1) gene.
Klopstock et al., Perugia, Italy. In Front Physiol, 2013
Next generation sequencing revealed no variations in the CACNA1A, CACNB4, KCNC3, KCNJ10, PRRT2 or SCN8A genes of either the patient or mother, except for a benign variant in SLC1A3.
Rapid development of Purkinje cell excitability, functional cerebellar circuit, and afferent sensory input to cerebellum in zebrafish.
Papazian et al., Los Angeles, United States. In Front Neural Circuits, 2013
Our results indicate that the electrical properties of zebrafish and mammalian Purkinje cells are highly conserved and suggest that the same ion channels, Nav1.6 and Kv3.3, underlie spontaneous pacemaking activity.
Altered Kv3.3 channel gating in early-onset spinocerebellar ataxia type 13.
Papazian et al., Los Angeles, United States. In J Physiol, 2012
Kv3.3 gating contributes significantly to an early age of onset in spinocerebellar ataxia type 13
Spinocerebellar ataxia 13 and 25.
Dürr et al., Paris, France. In Handb Clin Neurol, 2011
The KCNC3 mutation casued Spinocerebellar ataxia 13.
Spinocerebellar ataxia type 13 mutant potassium channel alters neuronal excitability and causes locomotor deficits in zebrafish.
Papazian et al., Los Angeles, United States. In J Neurosci, 2011
The spinocerebellar ataxia type 13 mutation of the KV3.3 gene specifically suppresses the excitability of Kv3.3-expressing, fast-spiking neurons in zebrafish
Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13).
Pulst et al., Salt Lake City, United States. In Plos One, 2010
Mutations in KCNC3 are a rare cause of spinocerebellar ataxia with a frequency of less than 1%.
Autosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristics.
Wszolek et al., Johnson City, United States. In Orphanet J Rare Dis, 2010
Subclass 3 contains disorders caused by specific gene deletions, missense mutation, and nonsense mutation and includes SCA13, SCA14, SCA15/16, SCA27 and SCA28.
Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond.
Durr, Paris, France. In Lancet Neurol, 2010
All other SCAs are caused by either conventional mutations or large rearrangements in genes with different functions, including glutamate signalling (SCA5/SPTBN2) and calcium signalling (SCA15/16/ITPR1), channel function (SCA13/KCNC3, SCA14/PRKCG, SCA27/FGF14), tau regulation (SCA11/TTBK2), and mitochondrial activity (SCA28/AFG3L2) or RNA alteration (SCA31/BEAN-TK2).
Dendritic Kv3.3 potassium channels in cerebellar purkinje cells regulate generation and spatial dynamics of dendritic Ca2+ spikes.
Rudy et al., New York City, United States. In J Neurophysiol, 2010
Dendritic Kv3.3 potassium channels in mice cerebellar purkinje cells regulate generation and spatial dynamics of dendritic Ca2+ spikes.
[Molecular genetic approach to spinocerebellar ataxias].
Mizusawa et al., Tokyo, Japan. In Rinsho Shinkeigaku, 2009
In addition to these dynamic mutations, static mutations, such as missense mutations and deletions, have been identified to cause SCA5, SCA11, SCA13, SCA14, SCA15 and SCA27.
Spinocerebellar Ataxia Type 13
Pulst, Seattle, United States. In Unknown Journal, 2006
DIAGNOSIS/TESTING: Diagnosis is based on clinical findings and molecular genetic testing of KCNC3 (also known as Kv3.3), the only gene known to be associated with SCA13.
Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes.
Pulst et al., Los Angeles, United States. In Nat Genet, 2006
results establish a role for KCNC3 in phenotypes ranging from developmental disorders to adult-onset neurodegeneration and suggest voltage-gated K+ channels as candidates for additional neurodegenerative diseases
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