SLC4A11


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SLC4A11

A gene on chromosome 20p12 that encodes a voltage-regulated, sodium-coupled borate cotransporter, which is essential for borate homeostasis, cell growth and cell proliferation.

Molecular pathology
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.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
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References in periodicals archive ?
Koh et al., "Depletion of SLC4A11 causes cell death by apoptosis in an immortalized human corneal endothelial cell line," Investigative Ophthalmology & Visual Science, vol.
Sundaresan et al., "Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2)," Nature Genetics, vol.
Ramprasad et al., "SLC4A11 mutations in Fuchs endothelial corneal dystrophy," Human Molecular Genetics, vol.
Garg et al., "Autosomal recessive corneal endothelial dystrophy (CHED2) is associated with mutations in SLC4A11," Journal of Medical Genetics, vol.