HCN1

Chr 5

hyperpolarization activated cyclic nucleotide gated potassium channel 1

Also known as: BCNG-1, BCNG1, DEE24, EIEE24, GEFSP10, HAC-2

NCBI Gene: 348980 ENSG00000164588 UniProt: O60741

This gene encodes a hyperpolarization-activated cation channel that contributes to pacemaker currents in neurons and can form homo- or heterodimeric potassium channels. Mutations cause developmental and epileptic encephalopathy 24 and generalized epilepsy with febrile seizures plus type 10 through an autosomal dominant inheritance pattern. The pathogenic mechanism appears to predominantly involve loss-of-function, consistent with the gene's high intolerance to loss-of-function variants.

ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

The membrane protein encoded by this gene is a hyperpolarization-activated cation channel that contributes to the native pacemaker currents in heart and neurons. The encoded protein can homodimerize or heterodimerize with other pore-forming subunits to form a potassium channel. This channel may act as a receptor for sour tastes. [provided by RefSeq, Oct 2011]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtDevelopmental and epileptic encephalopathy 24

UniProtGeneralized epilepsy with febrile seizures plus 10

Clinical highlights

Gene-disease validity (ClinGen)

generalized epilepsy with febrile seizures plus · ADDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Gain of function is the established mechanism, so a variant that simply removes the protein may not be the pathogenic class here — missense variants in functional domains often carry more weight.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.18

LOEUF· LoF intol.

GOF

Mechanism· annotated

Some data sources returned errors (1)

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