Notation for a gene for DFNA2.
Farlex Partner Medical Dictionary © Farlex 2012
KCNQ4A gene on chromosome 1p34 that encodes a K+ channel which regulates neuronal excitability, especially in the sensory cells of the cochlea. The current is inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, an anti-convulsant. KCNQ4 protein can form a homomultimeric K+ channel or heteromultimeric K+ channel with the KCNQ3 protein product.
KCNQ4 mutations are associated with non-syndromic sensorineural deafness type 2.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.