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proteins. Page last changed on 08 Dec 2016.
Solute carrier family 4, sodium borate transporter, member 11
SLC4A11, CHED2, NABC1, BCAS1, BTR1
This gene encodes a voltage-regulated, electrogenic sodium-coupled borate cotransporter that is essential for borate homeostasis, cell growth and cell proliferation. Mutations in this gene have been associated with a number of endothelial corneal dystrophies including recessive corneal endothelial dystrophy 2, corneal dystrophy and perceptive deafness, and Fuchs endothelial corneal dystrophy. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Mar 2010] (from
Vajpayee et al., New Delhi, India. In Mol Vis, 2009
The present study detected one novel and three reported changes, adding to the repertoire of mutations in SLC4A11, and recorded a high degree of genetic heterogeneity in Congenital Hereditary Endothelial Dystrophy.