Robbins J
Sensory Function Group, Centre for Neuroscience Research, King's College, Guy's Campus, London SE1 1UL, UK.
Pharmacol Ther. 2001 Apr;90(1):1-19. doi: 10.1016/s0163-7258(01)00116-4.
KCNQ genes encode a growing family of six transmembrane domains, single pore-loop, K(+) channel alpha-subunits that have a wide range of physiological correlates. KCNQ1 (KvLTQ1) is co-assembled with the product of the KCNE1 (minimal K(+)-channel protein) gene in the heart to form a cardiac-delayed rectifier-like K(+) current. Mutations in this channel can cause one form of inherited long QT syndrome (LQT1), as well as being associated with a form of deafness. KCNQ1 can also co-assemble with KCNE3, and may be the molecular correlate of the cyclic AMP-regulated K(+) current present in colonic crypt cells. KCNQ2 and KCNQ3 heteromultimers are thought to underlie the M-current; mutations in these genes may cause an inherited form of juvenile epilepsy. The KCNQ4 gene is thought to encode the molecular correlate of the I(K,n) in outer hair cells of the cochlea and I(K,L) in Type I hair cells of the vestibular apparatus, mutations in which lead to a form of inherited deafness. The recently identified KCNQ5 gene is expressed in brain and skeletal muscle, and can co-assemble with KCNQ3, suggesting it may also play a role in the M-current heterogeneity. This review will set this family of K(+) channels amongst the other known families. It will highlight the genes, physiology, pharmacology, and pathophysiology of this recently discovered, but important, family of K(+) channels.
KCNQ基因编码一个不断增加的跨膜结构域家族，该家族包含六个跨膜结构域、单个孔环、K(+)通道α亚基，具有广泛的生理相关性。KCNQ1（KvLTQ1）与KCNE1（最小K(+)通道蛋白）基因的产物在心脏中共同组装，形成一种心脏延迟整流样K(+)电流。该通道的突变可导致一种遗传性长QT综合征（LQT1），还与一种耳聋形式相关。KCNQ1还可与KCNE3共同组装，可能是结肠隐窝细胞中存在的环磷酸腺苷调节的K(+)电流的分子相关物。KCNQ2和KCNQ3异源多聚体被认为是M电流的基础；这些基因的突变可能导致一种遗传性青少年癫痫形式。KCNQ4基因被认为编码耳蜗外毛细胞中I(K,n)和前庭器官I型毛细胞中I(K,L)的分子相关物，其突变会导致一种遗传性耳聋形式。最近发现的KCNQ5基因在脑和骨骼肌中表达，并可与KCNQ3共同组装，表明它可能也在M电流异质性中起作用。本综述将把这个K(+)通道家族与其他已知家族进行比较。它将突出这个最近发现但很重要的K(+)通道家族的基因、生理学、药理学和病理生理学。
