SLC4A11 prevents osmotic imbalance leading to corneal endothelial dystrophy, deafness, and polyuria.

ABSTRACT: Maintenance of ion concentration gradients is essential for the function of many organs, including the kidney, the cornea, and the inner ear. Ion concentrations and fluid content in the cornea are regulated by endothelial cells that separate the collagenous avascular corneal stroma from the anterior eye chamber. Failure to maintain correct ion concentrations leads to swelling and destruction of the cornea. In the inner ear, the stria vascularis is responsible for generating proper ion concentrations in the endolymph, which is essential for hearing. Mutations of SLC4A11 in humans lead to syndromes associated with corneal dystrophy and perceptive deafness. The molecular mechanisms underlying these symptoms are poorly understood, impeding therapeutic interventions. The ion transporter SLC4A11

SUBMITTER: Groger N 

PROVIDER: S-EPMC2863209 | biostudies-literature | 2010 May

REPOSITORIES: biostudies-literature