Potassium voltage-gated channel subfamily C member 1 is a protein that in humans is encoded by the KCNC1 gene. [5][6][7] The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and comprises four subfamilies.

2024年12月25日 · KCNC1 (Potassium Voltage-Gated Channel Subfamily C Member 1) is a Protein Coding gene. Diseases associated with KCNC1 include Epilepsy, Progressive Myoclonic 7 and Neuronal Ceroid Lipofuscinosis. Among its related pathways are Potassium Channels and Transmission across Chemical Synapses.

When a disorder is traced back to a disease-causing (pathogenic) variant in the KCNC1 gene, it is called a KCNC1 -related disorder. KCNC1 -related disorders fall into defined clinical categories including the following:

Gene ID: 3746, updated on 8-Feb-2025. This gene encodes a member of a family of integral membrane proteins that mediate the voltage-dependent potassium ion permeability of excitable membranes. Alternative splicing is thought to result in two transcript variants encoding isoforms that differ at their C-termini.

2021年3月22日 · KCNC1 was identified as a DEG, in which hypermethylation inhibited its expression and it was associated with poor overall survival in patients with seminoma. The present results demonstrated that...

Specificity of RNA expression in 17 cancer types is categorized as either cancer enriched, group enriched, cancer enhanced, low cancer specificity and not detected. The RNA data was used to cluster genes according to their expression across cell lines.

2019年6月7日 · We identified three new de novo missense variants in KCNC1 in five unrelated individuals causing different phenotypes featuring either isolated nonprogressive myoclonus (p.Cys208Tyr), intellectual disability (p.Thr399Met), or epilepsy with myoclonic, absence and generalized tonic‐clonic seizures, ataxia, and developmental delay (p.Ala421Val, thr...

KCNC1, also known as K V 3.1, is a type of potassium channel expressed in specific neurons involved in action potential propagation and synaptic transmission. Variants in KCNC1 have been linked to various neurological disorders such as developmental delay, intellectual disability, epilepsy, and progressive myoclonus epilepsy.

A recurrent de novo missense variant in KCNC1, encoding a voltage-gated potassium channel expressed in inhibitory neurons, causes progressive myoclonus epilepsy and ataxia, and a nonsense variant is associated with intellectual disability.

Our mission, our fight for a brighter future is won when there is a cure for our babies suffering from KCNC1-related disorders. This will be accomplished through supporting research to accelerate the path to a cure, raising awareness to identify and connect more patients affected by KCNC1-related disorders, and by providing support to our families.