HCN1 ist ein Gen, das durch das Symbol HCN1 kodiert wird. Im Allgemeinen auch bezeichnet als: Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1; Brain cyclic nucleotide-gated channel 1; BCNG-1; BCNG1. HCN1 hat eine Masse von 98.8kDa, eine Aminosäurelänge von 890, und ist an folgenden Krankheiten beteiligt: Epileptic encephalopathy, early infantile, 24; Generalized epilepsy with febrile seizures plus 10.
Wir bieten 6 antikörper gegen HCN1, aufgewachsen in Kaninchen und Maus, welche geeignet sind für WB, IHC, ICC/IF and IP mit Proben abgeleitet von Human, Maus und Ratte.
Gen- und Proteininformationen
UniProt Zusammenfassung
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.
Entrez Zusammenfassung
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.
Gewebespezifität
Detected in brain, in particular in amygdala and hippocampus, while expression in caudate nucleus, corpus callosum, substantia nigra, subthalamic nucleus and thalamus is very low or not detectable. Detected at very low levels in muscle and pancreas.
Rolle bei Krankheiten
Epileptic encephalopathy, early infantile, 24: A disease characterized by early-onset seizures, intellectual disability of varying degrees, and behavioral disturbances or autistic features in most individuals.
Generalized epilepsy with febrile seizures plus 10: 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.
Sequenzähnlichkeiten
Belongs to the potassium channel HCN family.
