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. These isoforms have had conflicting names in the literature: the longer isoform has been called both "b" a... See more...

Aliases for KCNC1 Gene

Aliases for KCNC1 Gene

  • Potassium Voltage-Gated Channel Subfamily C Member 1 2 3 4 5
  • Potassium Channel, Voltage Gated Shaw Related Subfamily C, Member 1 2 3
  • Voltage-Gated Potassium Channel Subunit Kv4 3 4
  • NGK2 3 4
  • Potassium Voltage-Gated Channel, Shaw-Related Subfamily, Member 1 2
  • Voltage-Gated Potassium Channel Protein KV3.1 3
  • Voltage-Gated Potassium Channel Subunit Kv3.1 4
  • KV3.1 3
  • KCNC1 5
  • Kv3.1 2
  • EPM7 3
  • KV4 3

External Ids for KCNC1 Gene

Previous GeneCards Identifiers for KCNC1 Gene

  • GC11P018878
  • GC11P018699
  • GC11P017796
  • GC11P017721
  • GC11P017681
  • GC11P017712
  • GC11P017441

Summaries for KCNC1 Gene

Entrez Gene Summary for KCNC1 Gene

  • 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. These isoforms have had conflicting names in the literature: the longer isoform has been called both "b" and "alpha", while the shorter isoform has been called both "a" and "beta" (PMIDs 1432046, 12091563). [provided by RefSeq, Oct 2014]

GeneCards Summary for KCNC1 Gene

KCNC1 (Potassium Voltage-Gated Channel Subfamily C Member 1) is a Protein Coding gene. Diseases associated with KCNC1 include Epilepsy, Progressive Myoclonic 7 and Spinocerebellar Ataxia 13. Among its related pathways are Dopamine-DARPP32 Feedback onto cAMP Pathway and Potassium Channels. Gene Ontology (GO) annotations related to this gene include ion channel activity and delayed rectifier potassium channel activity. An important paralog of this gene is KCNC3.

UniProtKB/Swiss-Prot Summary for KCNC1 Gene

  • Voltage-gated potassium channel that plays an important role in the rapid repolarization of fast-firing brain neurons. The channel opens in response to the voltage difference across the membrane, forming a potassium-selective channel through which potassium ions pass in accordance with their electrochemical gradient (PubMed:25401298). Can form functional homotetrameric channels and heterotetrameric channels that contain variable proportions of KCNC2, and possibly other family members as well. Contributes to fire sustained trains of very brief action potentials at high frequency in pallidal neurons.

Tocris Summary for KCNC1 Gene

  • Voltage-gated potassium channels (KV) belong to the 6-TM family of potassium channel that also comprises the Ca2+-activated Slo (actually 7-TM) and the Ca2+-activated SK subfamilies. The alpha-subunits contain a single pore-forming region and combine to form tetramers.

Gene Wiki entry for KCNC1 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KCNC1 Gene

Genomics for KCNC1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KCNC1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J017734 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 +0.4 427 1.6 ZIC2 REST CTCF SIN3A SP2 SMAD4 SAP130 GABPB1 ZSCAN9 EBF1 HSALNG0082964 KCNC1 LINC02729 ENSG00000254586 SERGEF
GH11J017978 Enhancer 0.7 ENCODE 10.6 +244.1 244075 0.2 ZNF654 ATF3 YY1 HOMEZ CTCF CTBP1 RXRA RAD21 SMC3 RARA SERGEF MYOD1 KCNC1 RF00994-169 lnc-SERGEF-1 ENSG00000255448
GH11J017601 Enhancer 0.5 Ensembl 10.5 -133.2 -133174 1.2 ZIC2 CTCF EGR2 ZFHX2 EGR1 KCNC1 MYOD1 piR-51137-018 OTOG
GH11J017707 Enhancer 0.3 ENCODE dbSUPER 10.6 -26.9 -26908 0.6 LINC02729 KCNC1 MYOD1 OTOG
GH11J017894 Enhancer 0.3 Ensembl 10.5 +160.3 160327 0.6 GATA2 KCNC1 LOC107984317 RF00994-169 lnc-SERGEF-1 SERGEF ENSG00000255448
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KCNC1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KCNC1

Top Transcription factor binding sites by QIAGEN in the KCNC1 gene promoter:
  • CREB
  • deltaCREB
  • Max1
  • MyoD
  • NRSF form 1
  • NRSF form 2
  • p300
  • PPAR-alpha

Genomic Locations for KCNC1 Gene

Latest Assembly
chr11:17,734,774-17,856,804
(GRCh38/hg38)
Size:
122,031 bases
Orientation:
Plus strand

Previous Assembly
chr11:17,756,328-17,804,604
(GRCh37/hg19 by Entrez Gene)
Size:
48,277 bases
Orientation:
Plus strand

chr11:17,756,359-17,804,602
(GRCh37/hg19 by Ensembl)
Size:
48,244 bases
Orientation:
Plus strand

Genomic View for KCNC1 Gene

Genes around KCNC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCNC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCNC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNC1 Gene

Proteins for KCNC1 Gene

  • Protein details for KCNC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P48547-KCNC1_HUMAN
    Recommended name:
    Potassium voltage-gated channel subfamily C member 1
    Protein Accession:
    P48547
    Secondary Accessions:
    • K4DI87

    Protein attributes for KCNC1 Gene

    Size:
    511 amino acids
    Molecular mass:
    57942 Da
    Quaternary structure:
    • Heteromultimer with KCNG3, KCNG4 and KCNV2 (By similarity). Heteromultimer with KCNC2 (By similarity). Heterotetramer with KCNC3 (PubMed:23734863). Interacts with the ancillary subunits KCNE1 and KCNE2; the interaction modulates channel activity (By similarity).

    Alternative splice isoforms for KCNC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KCNC1 Gene

Post-translational modifications for KCNC1 Gene

  • N-glycosylated; contains sialylated glycans.
  • Glycosylation at Asn220 and Asn229
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for KCNC1 Gene

Domains & Families for KCNC1 Gene

Gene Families for KCNC1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • FDA approved drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters
  • Voltage-gated ion channels

Protein Domains for KCNC1 Gene

InterPro:
Blocks:
  • BTB/POZ domain
  • Potassium channel signature
  • Shaw voltage-gated K+ channel family signature
  • Kv3.1 voltage-gated K+ channel signature

Suggested Antigen Peptide Sequences for KCNC1 Gene

GenScript: Design optimal peptide antigens:
  • Voltage-gated potassium channel subunit Kv4 (KCNC1_HUMAN)
  • Potassium voltage-gated channel, Shaw-related subfamily, member 1 (Q3KNS8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P48547

UniProtKB/Swiss-Prot:

KCNC1_HUMAN :
  • The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position.
  • Belongs to the potassium channel family. C (Shaw) (TC 1.A.1.2) subfamily. Kv3.1/KCNC1 sub-subfamily.
Domain:
  • The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position.
  • The tail may be important in modulation of channel activity and/or targeting of the channel to specific subcellular compartments.
Family:
  • Belongs to the potassium channel family. C (Shaw) (TC 1.A.1.2) subfamily. Kv3.1/KCNC1 sub-subfamily.
genes like me logo Genes that share domains with KCNC1: view

Function for KCNC1 Gene

Molecular function for KCNC1 Gene

UniProtKB/Swiss-Prot Function:
Voltage-gated potassium channel that plays an important role in the rapid repolarization of fast-firing brain neurons. The channel opens in response to the voltage difference across the membrane, forming a potassium-selective channel through which potassium ions pass in accordance with their electrochemical gradient (PubMed:25401298). Can form functional homotetrameric channels and heterotetrameric channels that contain variable proportions of KCNC2, and possibly other family members as well. Contributes to fire sustained trains of very brief action potentials at high frequency in pallidal neurons.
GENATLAS Biochemistry:
potassium voltage-gated channel,Drosophila Shaw-related family,member 1 (mouse Kv3.1 homolog)

Phenotypes From GWAS Catalog for KCNC1 Gene

Gene Ontology (GO) - Molecular Function for KCNC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity IEA --
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005249 voltage-gated potassium channel activity IEA,IBA 21873635
GO:0005251 delayed rectifier potassium channel activity ISS --
GO:0005267 potassium channel activity IEA --
genes like me logo Genes that share ontologies with KCNC1: view
genes like me logo Genes that share phenotypes with KCNC1: view

Human Phenotype Ontology for KCNC1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KCNC1 Gene

MGI Knock Outs for KCNC1:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCNC1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for KCNC1 Gene

Localization for KCNC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNC1 Gene

Cell membrane. Multi-pass membrane protein. Cell projection, axon. Cell junction, synapse, presynaptic cell membrane. Note=Localizes in parallel fiber membranes, distributed on the perisynaptic and extrasynaptic membranes away from the active zones. {ECO:0000250 UniProtKB:P25122}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KCNC1 gene
Compartment Confidence
plasma membrane 5
nucleus 3
extracellular 2
cytoskeleton 2
endoplasmic reticulum 2
cytosol 2
mitochondrion 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nuclear membrane (2)
  • Nucleoplasm (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KCNC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0008076 voltage-gated potassium channel complex IEA,ISS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA,IBA 21873635
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with KCNC1: view

Pathways & Interactions for KCNC1 Gene

PathCards logo

SuperPathways for KCNC1 Gene

genes like me logo Genes that share pathways with KCNC1: view

Pathways by source for KCNC1 Gene

1 Qiagen pathway for KCNC1 Gene
  • Dopamine-DARPP32 Feedback onto cAMP Pathway

Gene Ontology (GO) - Biological Process for KCNC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport IEA,TAS 8449507
GO:0034220 ion transmembrane transport IEA --
GO:0034765 regulation of ion transmembrane transport IEA --
GO:0051260 protein homooligomerization IEA --
genes like me logo Genes that share ontologies with KCNC1: view

No data available for SIGNOR curated interactions for KCNC1 Gene

Drugs & Compounds for KCNC1 Gene

(9) Drugs for KCNC1 Gene - From: DrugBank, IUPHAR, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
4-Aminopyridine Approved Pharma Inhibitor, Target, antagonist potassium channel-blocking agent 64
Enflurane Approved, Investigational, Vet_approved Pharma Target, inhibitor, activator 2
Miconazole Approved, Investigational, Vet_approved Pharma Target, inhibitor 3164
Promethazine Approved, Investigational Pharma Target, inducer 494
tetraethylammonium Experimental, Investigational Pharma Inhibitor 1

(1) Additional Compounds for KCNC1 Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Kaliotoxin
145199-73-1

(4) Tocris Compounds for KCNC1 Gene

Compound Action Cas Number
Chromanol 293B IKs blocker. Also blocks ICFTR 163163-23-3
Flupirtine maleate KV7 channel activator 75507-68-5
Kaliotoxin KV and KCa blocker 145199-73-1
MaxiPost Potassium channel modulator; exerts subtype-specific effects 187523-35-9
genes like me logo Genes that share compounds with KCNC1: view

Transcripts for KCNC1 Gene

mRNA/cDNA for KCNC1 Gene

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCNC1

Alternative Splicing Database (ASD) splice patterns (SP) for KCNC1 Gene

No ASD Table

Relevant External Links for KCNC1 Gene

GeneLoc Exon Structure for
KCNC1

Expression for KCNC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KCNC1 Gene

mRNA differential expression in normal tissues according to GTEx for KCNC1 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x14.4), Brain - Cerebellum (x13.5), Brain - Frontal Cortex (BA9) (x4.6), and Brain - Cortex (x4.2).

Protein differential expression in normal tissues from HIPED for KCNC1 Gene

This gene is overexpressed in Frontal cortex (63.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KCNC1 Gene



Protein tissue co-expression partners for KCNC1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KCNC1

SOURCE GeneReport for Unigene cluster for KCNC1 Gene:

Hs.552896

Evidence on tissue expression from TISSUES for KCNC1 Gene

  • Nervous system(3.8)
  • Eye(2.4)
  • Heart(2.3)
  • Muscle(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for KCNC1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • head
genes like me logo Genes that share expression patterns with KCNC1: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt for KCNC1 Gene

Orthologs for KCNC1 Gene

This gene was present in the common ancestor of animals.

Orthologs for KCNC1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia KCNC1 29 30
  • 99.89 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia KCNC1 30
  • 97 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia KCNC1 29 30
  • 95.67 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia KCNC1 29 30
  • 95.5 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Kcnc1 29 16 30
  • 94.47 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Kcnc1 29
  • 94.19 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia KCNC1 30
  • 93 (a)
OneToOne
Chicken
(Gallus gallus)
Aves KCNC1 29 30
  • 85.87 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia KCNC1 30
  • 95 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia MGC75960 29
Zebrafish
(Danio rerio)
Actinopterygii kcnc1a 29 30
  • 74.81 (n)
OneToMany
kcnc1b 30
  • 74 (a)
OneToMany
myod 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11621 29
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008201 29
  • 61.19 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Shaw 31
  • 50 (a)
CG4450 31
  • 45 (a)
Worm
(Caenorhabditis elegans)
Secernentea egl-36 29
  • 52.87 (n)
shw-3 31
  • 44 (a)
Species where no ortholog for KCNC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for KCNC1 Gene

ENSEMBL:
Gene Tree for KCNC1 (if available)
TreeFam:
Gene Tree for KCNC1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KCNC1: view image
Alliance of Genome Resources:
Additional Orthologs for KCNC1

Paralogs for KCNC1 Gene

(21) SIMAP similar genes for KCNC1 Gene using alignment to 3 proteins:

  • KCNC1_HUMAN
  • K4DI87_HUMAN
  • Q3KNS8_HUMAN
genes like me logo Genes that share paralogs with KCNC1: view

Variants for KCNC1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KCNC1 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
1000486 Uncertain Significance: Epilepsy, progressive myoclonic 7 17,779,558(+) G/A
NM_001112741.2(KCNC1):c.1607G>A (p.Arg536His)
MISSENSE
1009750 Uncertain Significance: Epilepsy, progressive myoclonic 7 17,736,491(+) C/T
NM_001112741.2(KCNC1):c.489C>T (p.Gly163=)
SYNONYMOUS
1009942 Uncertain Significance: Epilepsy, progressive myoclonic 7 17,779,488(+) G/A
NM_001112741.2(KCNC1):c.1537G>A (p.Ala513Thr)
MISSENSE
1011041 Uncertain Significance: Epilepsy, progressive myoclonic 7 17,779,600(+) C/T
NM_001112741.2(KCNC1):c.1649C>T (p.Ser550Leu)
MISSENSE
1014282 Uncertain Significance: Epilepsy, progressive myoclonic 7 17,736,430(+) G/A
NM_001112741.2(KCNC1):c.428G>A (p.Gly143Asp)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for KCNC1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for KCNC1 Gene

Variant ID Type Subtype PubMed ID
nsv1038119 CNV gain 25217958
nsv472302 CNV novel sequence insertion 20440878
nsv472964 CNV novel sequence insertion 20440878
nsv476533 CNV novel sequence insertion 20440878
nsv509390 CNV insertion 20534489
nsv516767 CNV loss 19592680
nsv521511 CNV loss 19592680
nsv553567 CNV gain 21841781
nsv553588 CNV loss 21841781
nsv553589 CNV loss 21841781
nsv825772 CNV gain 20364138
nsv825773 CNV loss 20364138
nsv832078 CNV loss 17160897

Variation tolerance for KCNC1 Gene

Residual Variation Intolerance Score: 10.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.46; 10.00% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KCNC1 Gene

Human Gene Mutation Database (HGMD)
KCNC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KCNC1
Leiden Open Variation Database (LOVD)
KCNC1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNC1 Gene

Disorders for KCNC1 Gene

MalaCards: The human disease database

(15) MalaCards diseases for KCNC1 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search KCNC1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KCNC1_HUMAN
  • Epilepsy, progressive myoclonic 7 (EPM7) [MIM:616187]: A neurologic disorder characterized by progressive myoclonic epilepsy, manifesting in the first or second decades of life. Cognitive function may decline in some patients. Myoclonus is a brief, involuntary twitching of a muscle or a group of muscles. {ECO:0000269 PubMed:25401298}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for KCNC1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with KCNC1: view

No data available for Genatlas for KCNC1 Gene

Publications for KCNC1 Gene

  1. Localization of a highly conserved human potassium channel gene (NGK2-KV4; KCNC1) to chromosome 11p15. (PMID: 8449507) Ried T … Sen K (Genomics 1993) 2 3 4 22
  2. A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. (PMID: 25401298) Muona M … Lehesjoki AE (Nature genetics 2015) 3 4 72
  3. The Shaw-related potassium channel gene, Kv3.1, on human chromosome 11, encodes the type l K+ channel in T cells. (PMID: 1400413) Grissmer S … Chandy KG (The Journal of biological chemistry 1992) 3 4 22
  4. Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties. (PMID: 28380698) Oliver KL … Berkovic SF (Annals of neurology 2017) 3 72
  5. Spinocerebellar ataxia-13 Kv3.3 potassium channels: arginine-to-histidine mutations affect both functional and protein expression on the cell surface. (PMID: 23734863) Zhao J … Thornhill WB (The Biochemical journal 2013) 3 4

Products for KCNC1 Gene

Sources for KCNC1 Gene