KCNK1

Chr 1

potassium two pore domain channel subfamily K member 1

Also known as: DPK, HOHO, K2P1, K2p1.1, KCNO1, TWIK-1, TWIK1

NCBI Gene: 3775 ENSG00000135750 UniProt: O00180

The protein encoded by this gene forms potassium channels that regulate resting membrane potential and neuronal excitability in brain astrocytes and other tissues, functioning primarily as heterodimers with other potassium channel subunits. Pathogenic variants in KCNK1 cause autosomal dominant epilepsy with febrile seizures plus (EFSP) and focal epilepsy, typically with childhood onset. The gene shows tolerance to loss-of-function variants (pLI 0.03, LOEUF 0.91), suggesting the pathogenic mechanism may not involve simple protein loss.

ResearchSummary from RefSeq, UniProt

This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The product of this gene has not been shown to be a functional channel, however, it may require other non-pore-forming proteins for activity. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.91

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)