Article
A biochemical framework for SLC4A11, the plasma membrane protein defective in corneal dystrophies.
Biochemistry - 29 Mar 2011
Vilas Gonzalo L, Morgan Patricio E, Loganathan Sampath K, Quon Anita, Casey Joseph R
Abstract excerpt
Mutations in the SLC4A11 protein, reported as a sodium-coup-led borate transporter of the human plasma membrane, are responsible for three corneal dystrophies (CD): congenital hereditary endothelial dystrophy type 2, Harboyan syndrome, and late-onset Fuch's CD. To develop a rational basis to understand these diseases, whose point mutations are found throughout the SLC4A11 sequence, we analyzed the protein...
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