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KCNT1

Chr 9q34.3

potassium sodium-activated channel subfamily T member 1

Aliases:
KCa4.1, KIAA1422, SLACK, Slo2.2
MANE:
ENST00000371757.7

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Early onset or syndromic epilepsy

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Intellectual disability

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Fetal anomalies

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • developmental and epileptic encephalopathy, 14

    0.81
  • autosomal dominant nocturnal frontal lobe epilepsy 5

    0.78
  • autosomal dominant nocturnal frontal lobe epilepsy

    0.59
  • malignant migrating partial seizures of infancy

    0.58
  • Seizure

    0.51
  • hereditary disease

    0.51
  • epilepsy

    0.47
  • childhood-onset epilepsy syndrome

    0.45
  • sleep-related hypermotor epilepsy

    0.39
  • familial sleep-related hypermotor epilepsy

    0.39

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Potassium channel subfamily T member 1

Sodium-activated K(+) channel (PubMed:37494189). Acts as an important mediator of neuronal membrane excitability (PubMed:37494189). Contributes to the delayed outward currents (By similarity). Regulates neuronal bursting in sensory neurons (By similarity). Contributes to synaptic development and plasticity (By similarity)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.