KCNT1

Last updated
KCNT1
Identifiers
Aliases KCNT1 , EIEE14, ENFL5, KCa4.1, SLACK, bA100C15.2, Slo2.2, potassium sodium-activated channel subfamily T member 1, DEE14
External IDs OMIM: 608167; MGI: 1924627; HomoloGene: 11055; GeneCards: KCNT1; OMA:KCNT1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001272003
NM_020822

NM_001145403
NM_175462
NM_001302351

RefSeq (protein)

NP_001258932
NP_065873

NP_001138875
NP_001289280
NP_780671

Location (UCSC) Chr 9: 135.7 – 135.8 Mb Chr 2: 25.75 – 25.81 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Potassium channel subfamily T, member 1, also known as KCNT1 is a human gene that encodes the KCa4.1 protein. KCa4.1 is a member of the calcium-activated potassium channel protein family [5]

Contents

Associated Conditions

Mutations in the KCNT1 gene has been shown to be a cause of Ohtahara syndrome and other congenital neurodegenerative diseases. [6]

See also

Related Research Articles

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References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000107147 Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000058740 Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. "Entrez Gene: KCNT1 potassium channel, subfamily T, member 1".
  6. "OMIM: 614959".{{cite web}}: Missing or empty |url= (help)

Further reading