hyperpolarization activated cyclic nucleotide gated potassium channel 1
The information on this page was automatically extracted from online scientific databases.
From NCBI Gene:
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]
Hyperpolarization-activated ion channel exhibiting weak selectivity for potassium over sodium ions (PubMed:28086084). Contributes to the native pacemaker currents in heart (If) and in neurons (Ih). May mediate responses to sour stimuli.
From NCBI Gene:
- GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 10
- Epileptic encephalopathy, early infantile, 24
Epileptic encephalopathy, early infantile, 24 (EIEE24): A disease characterized by early-onset seizures, intellectual disability of varying degrees, and behavioral disturbances or autistic features in most individuals. [MIM:615871]
Generalized epilepsy with febrile seizures plus 10 (GEFSP10): An autosomal dominant neurologic disorder with incomplete penetrance, characterized by variable types of seizures including absence, tonic-clonic, febrile, focal, and eyelid myoclonia. Some patients have normal neurologic development. Others have mild-to-moderate intellectual disability or autism spectrum disorder. [MIM:618482]