Article
Functional assessment of SLC4A11, an integral membrane protein mutated in corneal dystrophies.
American journal of physiology. Cell physiology - 1 Nov 2016
Loganathan Sampath K, Schneider Hans-Peter, Morgan Patricio E, Deitmer Joachim W, Casey Joseph R
Abstract excerpt
SLC4A11, a member of the SLC4 family of bicarbonate transporters, is a widely expressed integral membrane protein, abundant in kidney and cornea. Mutations of SLC4A11 cause some cases of the blinding corneal dystrophies, congenital hereditary endothelial dystrophy, and Fuchs endothelial corneal dystrophy. These diseases are marked by fluid accumulation in the corneal stroma, secondary to defective fluid...
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