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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
KCNC1
potassium voltage-gated channel subfamily C member 1
Chromosome 11 Β· 11p15.1
NCBI Gene: 3746Ensembl: ENSG00000129159.9HGNC: HGNC:6233UniProt: P48547
49PubMed Papers
21Diseases
7Drugs
16Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelTransporter
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein tetramerizationvoltage-gated potassium channel complexprotein bindingvoltage-gated potassium channel activityProgressive myoclonic epilepsymultiple sclerosisMyasthenia gravisLambert-Eaton myasthenic syndrome
✦AI Summary

KCNC1 encodes Kv3.1, a voltage-gated potassium channel that plays a crucial role in neuronal excitability and rapid repolarization of fast-firing neurons 1. The channel functions as a delayed rectifier, opening in response to membrane voltage changes and allowing potassium ion efflux according to electrochemical gradients 1. KCNC1 forms homotetrameric or heterotetrameric channel complexes and is abundantly expressed in fast-spiking principal neurons and GABAergic interneurons throughout the auditory pathway and various brain regions 1. Disease associations include progressive myoclonus epilepsy type 7, with specific variants causing different phenotypes 2. The recurrent p.Ala421Val variant causes developmental and epileptic encephalopathy through loss of function without dominant-negative effects, while other loss-of-function variants can cause developmental encephalopathy without seizures 2. Notably, nonsense variants like p.Arg339* result in intellectual disability without epilepsy 3. The channel is sensitive to oxidative stress, which reduces its surface trafficking and current density - effects that can be reversed by melatonin treatment 1. KCNC1 has also been implicated in opioid use disorder through genome-wide association studies 4. The gene maps to chromosome 11 and shows high evolutionary conservation across mammals 5.

Sources cited
1
KCNC1 encodes Kv3.1 channel expressed in fast-spiking neurons and is sensitive to oxidative stress
PMID: 38725150
2
Different KCNC1 variants cause developmental epileptic encephalopathy or developmental encephalopathy without seizures
PMID: 31353855
3
Nonsense KCNC1 variants cause intellectual disability without seizures
PMID: 28145425
4
KCNC1 variants associated with opioid use disorder risk
PMID: 30118972
5
KCNC1 gene location and evolutionary conservation in mammals
PMID: 8449507
Disease Associationsβ“˜21
Progressive myoclonic epilepsyOpen Targets
0.77Strong
multiple sclerosisOpen Targets
0.59Moderate
Myasthenia gravisOpen Targets
0.56Moderate
Lambert-Eaton myasthenic syndromeOpen Targets
0.55Moderate
genetic disorderOpen Targets
0.47Moderate
progressive myoclonus epilepsyOpen Targets
0.46Moderate
Muscle weaknessOpen Targets
0.46Moderate
congenital myasthenic syndromeOpen Targets
0.43Moderate
Congenital myasthenic syndromesOpen Targets
0.43Moderate
neurodegenerative diseaseOpen Targets
0.41Moderate
nervous system diseaseOpen Targets
0.38Weak
cancerOpen Targets
0.38Weak
neoplasmOpen Targets
0.37Weak
neuromuscular diseaseOpen Targets
0.37Weak
autoimmune disorder of the nervous systemOpen Targets
0.37Weak
cardiac arrhythmiaOpen Targets
0.37Weak
Increased muscle fatiguabilityOpen Targets
0.37Weak
nervous system neoplasmOpen Targets
0.37Weak
neuromuscular junction diseaseOpen Targets
0.37Weak
Unverricht-Lundborg diseaseOpen Targets
0.37Weak
Epilepsy, progressive myoclonic 7UniProt
Pathogenic Variants16
NM_001112741.2(KCNC1):c.1196C>T (p.Thr399Met)Pathogenic
Progressive myoclonic epilepsy type 7|Seizure
β˜…β˜…β˜†β˜†2025β†’ Residue 399
NM_001112741.2(KCNC1):c.1273G>A (p.Val425Met)Pathogenic
not provided|Progressive myoclonic epilepsy type 7
β˜…β˜…β˜†β˜†2025β†’ Residue 425
NM_001112741.2(KCNC1):c.959G>A (p.Arg320His)Pathogenic
Progressive myoclonic epilepsy type 7|Inborn genetic diseases|not provided|Progressive myoclonic epilepsy
β˜…β˜…β˜†β˜†2024β†’ Residue 320
NM_001112741.2(KCNC1):c.1262C>T (p.Ala421Val)Pathogenic
Progressive myoclonic epilepsy type 7|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 421
NM_001112741.2(KCNC1):c.1538C>T (p.Ala513Val)Likely pathogenic
Progressive myoclonic epilepsy type 7
β˜…β˜†β˜†β˜†2025β†’ Residue 513
NM_001112741.2(KCNC1):c.430G>A (p.Asp144Asn)Likely pathogenic
KCNC1-related disorder
β˜…β˜†β˜†β˜†2024β†’ Residue 144
NM_001112741.2(KCNC1):c.1290G>A (p.Met430Ile)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 430
NM_001112741.2(KCNC1):c.1199C>A (p.Thr400Asn)Pathogenic
Progressive myoclonic epilepsy type 7
β˜…β˜†β˜†β˜†2023β†’ Residue 400
NM_001112741.2(KCNC1):c.490C>T (p.Arg164Trp)Likely pathogenic
Progressive myoclonic epilepsy type 7
β˜…β˜†β˜†β˜†2021β†’ Residue 164
NM_001112741.2(KCNC1):c.22G>T (p.Glu8Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2021β†’ Residue 8
NM_001112741.2(KCNC1):c.623G>A (p.Cys208Tyr)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2020β†’ Residue 208
NM_001112741.2(KCNC1):c.1370del (p.Lys457fs)Likely pathogenic
Progressive myoclonic epilepsy type 7
β˜…β˜†β˜†β˜†2019β†’ Residue 457
NM_001112741.2(KCNC1):c.1294G>C (p.Val432Leu)Likely pathogenic
Progressive myoclonic epilepsy type 7
β˜…β˜†β˜†β˜†2018β†’ Residue 432
NM_001112741.2(KCNC1):c.108del (p.Trp36fs)Likely pathogenic
Progressive myoclonic epilepsy type 7
β˜…β˜†β˜†β˜†2018β†’ Residue 36
NM_001112741.2(KCNC1):c.691A>G (p.Thr231Ala)Likely pathogenic
Progressive myoclonic epilepsy type 7
β˜…β˜†β˜†β˜†2018β†’ Residue 231
NM_001112741.2(KCNC1):c.1023C>G (p.Ser341Arg)Likely pathogenic
Progressive myoclonic epilepsy type 7
β˜…β˜†β˜†β˜†β†’ Residue 341
View on ClinVar β†—
Drug Targets7
AMIFAMPRIDINEApproved
Voltage-gated potassium channel blocker
Myasthenia gravis
AMIFAMPRIDINE PHOSPHATEApproved
Voltage-gated potassium channel blocker
Lambert-Eaton myasthenic syndrome
DALFAMPRIDINEApproved
Voltage-gated potassium channel blocker
multiple sclerosis
GUANIDINEPhase III
Voltage-gated potassium channel blocker
neuroendocrine neoplasm
GUANIDINE HYDROCHLORIDEApproved
Voltage-gated potassium channel blocker
Myasthenia gravis
NERISPIRDINEPhase II
Voltage-gated potassium channel blocker
multiple sclerosis
TEDISAMILApproved
Voltage-gated potassium channel blocker
cardiac arrhythmia
Related Genes
KCNIP1Protein interaction100%KCNIP3Protein interaction99%KCNIP2Protein interaction99%KCNIP4Protein interaction94%FAUProtein interaction91%KCNC4Protein interaction91%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
3%
Ovary
1%
Liver
0%
Lung
0%
Heart
0%
Gene Interaction Network
Click a node to explore
KCNC1KCNIP1KCNIP3KCNIP2KCNIP4FAUKCNC4
PROTEIN STRUCTURE
Preparing viewer…
PDB8QUD Β· 2.50 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.36Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.20 [0.12–0.36]
RankingsWhere KCNC1 stands among ~20K protein-coding genes
  • #8,964of 20,598
    Most Researched49
  • #320of 1,025
    FDA-Approved Drug Targets5
  • #2,413of 5,498
    Most Pathogenic Variants16
  • #1,639of 17,882
    Most Constrained (LOEUF)0.36 Β· top 10%
Genes detectedKCNC1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Potassium channels and epilepsy.
PMID: 36225112
Acta Neurol Scand Β· 2022
1.00
2
Identification of metabolism-related subtypes and feature genes in Alzheimer's disease.
PMID: 37715200
J Transl Med Β· 2023
0.90
3
Oxidative stress-related cellular aging causes dysfunction of the Kv3.1/KCNC1 channel reverted by melatonin.
PMID: 38725150
Aging Cell Β· 2024
0.80
4
Genomic organization, nucleotide sequence, biophysical properties, and localization of the voltage-gated K+ channel gene KCNA4/Kv1.4 to mouse chromosome 2/human 11p14 and mapping of KCNC1/Kv3.1 to mouse 7/human 11p14.3-p15.2 and KCNA1/Kv1.1 to human 12p13.
PMID: 8020965
Genomics Β· 1994
0.70
5
A review of opioid addiction genetics.
PMID: 30118972
Curr Opin Psychol Β· 2019
0.60