mProX™ Human KCNC3 Stable Cell Line

Product Information

Target Protein

KCNC3

Target Family

Kv3

Target Protein Species

Human

Host Cell Type

Flp-In-CHO; CHO-K1; HEK293

Accession Number

NM_004977

Target Classification

Ion Channel Cell Lines

Target Research Area

Cardiovascular Research; CNS Research

Related Diseases

Spinocerebellar Ataxia; Autosomal Dominant Cerebellar Ataxia

Gene ID

3748

UniProt ID

Q14003

Product Properties

Biosafety Level

Level 1

Activity

Yes

Quantity

10⁶ cells per vial

Applications

The voltage-gated potassium channel subunit Kv3.3, which is encoded by KCNC3, is responsible for driving the repolarization phase of action potentials and is highly expressed in cerebellar Purkinje cells. Spinocerebellar ataxia (SCA13), a disorder that can potentially include cognitive impairments and suggests both cerebellar and extracerebellar dysfunction, has been linked to mutations in the KCNC3. There are two missense mutations that have been identified; these mutations are likely to alter the properties of Purkinje cells' (and other neurons') output and disrupt the function of Kv3.3 channels in the repolarization of action potentials. For the three Kv3 genes (Kv3.1-Kv3.3) that are highly expressed in CNS neurons, knockout mice have been produced. The Kv3.1 and Kv3.3 double mutants exhibit severe ataxia, tremor, and myoclonus. The Kv3.1 and Kv3.3 knockout mice exhibit increased locomotor activity and sleep loss. The Kv3.3 knockout mice exhibit impaired gait and reduced motor performance associated with abnormal Purkinje cell discharges and abnormal olivocerebellar system properties. The customized KCNC3 stable cell line can be used in antibody discovery and development, potential drug candidate screening and signaling pathway researches.

Protocols

Please visit our protocols page.

Customer Reviews

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FAQ

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Published Data

Fig.1 The p.Pro583_Pro585del mutant protein.

The mutant protein p.Pro583_Pro585del exhibits normal trafficking, decelerates inactivation, and diminishes susceptibility to actin depolymerization. protein isolated from CHO cells expressing p.Pro583_Pro585del or KCNC3, which displays normal glycosylation as opposed to aberrantly glycosylated p.ARGOHis.

Ref: Khare, Swati, et al. "C-terminal proline deletions in KCNC3 cause delayed channel inactivation and an adult-onset progressive SCA13 with spasticity." The Cerebellum 17 (2018): 692-697.

Pubmed: 29949095

DOI: 10.1007/s12311-018-0950-5

Research Highlights

The phenotypes of motor incoordination and cerebellar atrophy serve as the foundation for the autosomal dominant spinocerebellar ataxias (SCAs), a broad category of neurological illnesses. Different comorbidities, such as dysphagia, dysarthria, oculomotor and/or retinal abnormalities, motor neuron pathology, epilepsy, cognitive impairment, autonomic dysfunction, and psychiatric manifestations, are indicative of the disease's heterogeneity.
Khare, Swati, et al. "A KCNC3 mutation causes a neurodevelopmental, non-progressive SCA13 subtype associated with dominant negative effects and aberrant EGFR trafficking." PLoS One 12.5 (2017): e0173565.
Pubmed: 28467418 DOI: 10.1371/journal.pone.0173565

Mutations in the voltage-gated potassium channel KCNC3 cause spinocerebellar ataxia type 13, an autosomal dominantly inherited neurodegenerative condition of the cerebellum.
Duarri, Anna, et al. "Functional analysis helps to define KCNC3 mutational spectrum in Dutch ataxia cases." PLoS One 10.3 (2015): e0116599.
Pubmed: 25756792 DOI: 10.1371/journal.pone.0116599