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About: Channelopathy     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : yago:State100024720, within Data Space : dbpedia.demo.openlinksw.com associated with source document(s)

Type: ThingDiseaseyago:Abstraction100002137yago:Attribute100024264yago:Condition113920835yago:Disease114070360yago:GeneticDisease114151139yago:IllHealth114052046yago:Illness114061805yago:PathologicalState114051917yago:PhysicalCondition114034177yago:WikicatGeneticDisordersdiseaseyago:State100024720 New Facet based on Instances of this Class

Channelopathies are a group of diseases caused by the dysfunction of ion channel subunits or their interacting proteins. These diseases can be inherited or acquired by other disorders, drugs, or toxins. Mutations in genes encoding ion channels, which impair channel function, are the most common cause of channelopathies. There are more than 400 genes that encode ion channels, found in all human cell types and are involved in almost all physiological processes. Each type of channel is a multimeric complex of subunits encoded by a number of genes. Depending where the mutation occurs it may affect the gating, conductance, ion selectivity, or signal transduction of the channel.