GENETIC ENCYCLOPEDIA
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gene: KCNJ10

id3766
symbolKCNJ10
organismHomo sapiens
full namepotassium voltage-gated channel subfamily J member 10
summaryThis gene encodes a member of the inward rectifier-type potassium channel family, characterized by having a greater tendency to allow potassium to flow into, rather than out of, a cell. The encoded protein may form a heterodimer with another potassium channel protein and may be responsible for the potassium buffering action of glial cells in the brain. Mutations in this gene have been associated with seizure susceptibility of common idiopathic generalized epilepsy syndromes. [provided by RefSeq, Jul 2008]
variant-disease

NM_002241.4(KCNJ10):c.418T>C (p.Cys140Arg) AND SeSAME syndrome

NM_002241.4(KCNJ10):c.581C>A (p.Pro194His) AND Enlarged vestibular aqueduct

NM_002241.4(KCNJ10):c.*3840T>C AND Pendred syndrome

NM_002241.4(KCNJ10):c.*734C>T AND Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance Syndrome

NM_002241.4(KCNJ10):c.1123C>T (p.Arg375Cys) AND Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance Syndrome

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