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GEFSP10

Chr 5AD

hyperpolarization activated cyclic nucleotide gated potassium channel 1

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

NCBI Gene: 348980 OMIM: 618482

The encoded membrane protein is a hyperpolarization-activated cation channel that contributes to pacemaker currents in heart and neurons and can form potassium channels through homo- or heterodimerization with other subunits. Mutations cause generalized epilepsy with febrile seizures plus, type 10, with autosomal dominant inheritance. This condition typically involves seizures that begin in childhood, often triggered by fever, and may progress to include other seizure types.

OMIM ResearchSummary from RefSeq, OMIM

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]

OMIM ResearchGenerating clinical summary…