{"symbol":"SLC4A11","synonyms":["BTR1","DJ794I6.2","CDPD1"],"name":"solute carrier family 4, sodium borate transporter, member 11","description":"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]","ncbiEntrezGeneId":83959,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/83959","proteins":[{"symbol":"S4A11_HUMAN","href":"/api/1.0/protein/S4A11_HUMAN"}],"hgncRootFamilies":[{"name":"Solute carriers (SLC)","href":"/api/1.0/gene_family/Solute+carriers+%28SLC%29"}]}