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gene: KCNQ5

id56479
symbolKCNQ5
organismHomo sapiens
full namepotassium voltage-gated channel subfamily Q member 5
summaryThis gene is a member of the KCNQ potassium channel gene family that is differentially expressed in subregions of the brain and in skeletal muscle. The protein encoded by this gene yields currents that activate slowly with depolarization and can form heteromeric channels with the protein encoded by the KCNQ3 gene. Currents expressed from this protein have voltage dependences and inhibitor sensitivities in common with M-currents. They are also inhibited by M1 muscarinic receptor activation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
variant-disease

NM_001160133.1(KCNQ5):c.1105C>A (p.Pro369Thr) AND Inborn genetic diseases

NM_001160133.1(KCNQ5):c.532C>T (p.Arg178Ter) AND not provided

NM_001160134.1(KCNQ5):c.1247+8947G>T AND MENTAL RETARDATION, AUTOSOMAL DOMINANT 46

NM_001160133.1(KCNQ5):c.1558G>A (p.Asp520Asn) AND MENTAL RETARDATION, AUTOSOMAL DOMINANT 46

NM_019842.3(KCNQ5):c.434T>G (p.Val145Gly) AND MENTAL RETARDATION, AUTOSOMAL DOMINANT 46

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