Summary
Performance
Immunogen
Application
Background
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],disease:Defects in SLC4A11 are the cause of corneal dystrophy and perceptive deafness (CDPD) [MIM:217400]; also known as corneal dystrophy and sensorineural deafness or Harboyan syndrome. CDPD consists of congenital corneal endothelial dystrophy and progressive perceptive deafness. Inheritance is autosomal recessive.,disease:Defects in SLC4A11 are the cause of corneal endothelial dystrophy type 2 (CHED2) [MIM:217700]; also known as congenital hereditary endothelial dystrophy of cornea. This bilateral corneal dystrophy is characterized by corneal opacification and nystagmus. Inheritance is autosomal recessive.,function:Transporter involved in borate homeostasis. In the absence of borate, it functions as a Na(+) and OH(-)(H(+)) channel. In the presence of borate functions as an electrogenic Na(+) coupled borate cotransporter.,PTM:Glycosylated.,similarity:Belongs to the anion exchanger (TC 2.A.31) family.,tissue specificity:Widely expressed. Highly expressed in kidney, testis, salivary gland, thyroid, trachea and corneal endothelium. Not detected in retina and lymphocytes.,
Research Area
