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KCNT1

From Wikipedia, the free encyclopedia
KCNT1
Identifiers
AliasesKCNT1, EIEE14, ENFL5, KCa4.1, SLACK, bA100C15.2, Slo2.2, potassium sodium-activated channel subfamily T member 1, DEE14
External IDsOMIM: 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 MbChr 2: 25.75 – 25.81 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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]

Associated Conditions

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Mutations in the KCNT1 gene has been shown to be a cause of Early Infantile Epileptic Encephalopathy. [6]

See also

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References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000107147Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000058740Ensembl, 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

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