HCN1 è un gene codificato dal simbolo HCN1. Comunemente indicato anche come: Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1; Brain cyclic nucleotide-gated channel 1; BCNG-1; BCNG1. HCN1 ha una massa di 98.8kDa, una lunghezza di amminoacidi di 890, ed è implicato nella malattia: Epileptic encephalopathy, early infantile, 24; Generalized epilepsy with febrile seizures plus 10.
Offriamo 6 anticorpi contro HCN1, allevati nel Coniglio e Topo, che sono adatti per WB, IHC, ICC/IF e IP con campioni derivati da Umano, Topo e Ratto.
Informazioni su geni e proteine
Riepilogo UniProt
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.
Sommario di Entrez
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.
Specificità del tessuto
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.
Coinvolgimento nella malattia
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.
Somiglianze di sequenza
Belongs to the potassium channel HCN family.
Posizione cellulare
Cell membrane.
