KCNQ5 polyclonal antibody

Voltage-gated K+ channels in the plasma membrane control the repolarization and frequency of action potentials in neurons, muscles and other excitable cells. KCNQ proteins contain six transmembrane domains and function as tetramers. KCNQ4 forms heteromeric channels with KCNQ3 and is expressed in several tissues, including the cochlea, where it is present in outer hair cells. KCNQ5 expression is highest in the brain and muscle. Out of the three splice variants of KCNQ5, the longest variant, KCNQ5 type III, is the predominant form expressed in skeletal muscle. The gene encoding human KCNQ5 maps to chromosome 6q13. Mutations in the gene encoding KCNQ2, but not in the gene encoding KCNQ5, lead to benign familial neonatal convulsions, while mutations in the genes encoding for KCNQ1 and KCNE1 lead to cardiac disease because they directly impair electrical signaling. Mutations in KCNQ4 are implicated in the onset of deafness.