SLC4A11

(redirected from CHED2)

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.
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References in periodicals archive ?
CHED2 is an autosomal recessive disorder, which is featured by decreasing in corneal endothelial cell density [51].
Sundaresan et al., "Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2)," Nature Genetics, vol.
Garg et al., "Autosomal recessive corneal endothelial dystrophy (CHED2) is associated with mutations in SLC4A11," Journal of Medical Genetics, vol.