Potassium Channel, Voltage-Gated, ISK-Related Subfamily, Member 1

Alternative Names

  • KCNE1
  • ISK
  • Minimal Potassium Ion Channel
  • MINK
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OMIM Number

176261

NCBI Gene ID

3753

Uniprot ID

P15382

Length

93,561 bases

No. of Exons

7

No. of isoforms

1

Protein Name

Potassium voltage-gated channel subfamily E member 1

Molecular Mass

14675 Da

Amino Acid Count

129

Genomic Location

chr21:34,418,715-34,512,275

Gene Map Locus
21q22.12

Description

The KCNE1 gene codes for a protein that regulates the function of the potassium channels that are active in the inner ear and cardiac muscles. It is therefore involved in both hearing and maintaining regular heart rhythm. 

Mutations in the gene are known to cause both the autosomal dominant Long QT Syndrome 5 and the recessive  Jervell and Lange-Nielsen Syndrome 2. 

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001127670.3:c.20C>TLebanonNC_000021.9:g.34449615G>APathogenicPathogenicJervell and Lange-Nielsen Syndrome 2NG_009091.1:g.66701C>T ; NM_001127670.3:c.20C>T; NP_001121142.1:p.Thr7Ile2893338413476
NM_001127670.3:c.226G>ALebanonNC_000021.9:g.34449409C>TLikely Pathogenic, Pathogenic, Uncertain SignificancePathogenicJervell and Lange-Nielsen Syndrome 2NG_009091.1:g.66907G>A ; NM_001127670.3:c.226G>A; NP_001121142.1:p.Asp76Asn7431544513477
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