Connexins and gap junctions in the inner ear.
Mutations in the genes for three different isotypes of the gap junction channel protein connexin are associated with deafness. This indicates an important role for gap junctions in auditory function and provides an opportunity to explore structure-function relationships in the connexin molecule. We have been examining the distribution of gap junctions and the pattern of connexin expression in the mature inner ear and during development, and the effect of specific mutations on the processing and functionality of the expressed connexin proteins in an in vitro system.
Forge
Andrew
A
UCL Centre for Auditory Research and Institute of Laryngology and Otology, UCL, London, UK. a.forge@ucl.ac.uk
Becker
David
D
Casalotti
Stefano
S
Edwards
Jill
J
Marziano
Nerissa
N
Nickel
Regina
R
D003051:Cochlea / Q000378:metabolism; D017630:Connexins / Q000378:metabolism*; D007758:Ear, Inner / Q000378:metabolism*; D017629:Gap Junctions / Q000378:metabolism*; D006319:Hearing Loss, Sensorineural / Q000235:genetics / Q000378:metabolism; D009925:Organ of Corti / Q000378:metabolism; D013316:Stria Vascularis / Q000378:metabolism; D014722:Vestibule, Labyrinth / Q000378:metabolism
D017630:Connexins