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SLC4A11A gene on chromosome 20p12 that encodes a voltage-regulated, sodium-coupled borate cotransporter, which is essential for borate homeostasis, cell growth and cell proliferation.
SLC4A11 mutations have been linked to endothelial corneal dystrophies (e.g., autosomal recessive corneal endothelial dystrophy 2, corneal dystrophy and perceptive deafness) and Fuchs endothelial corneal dystrophy.
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