BTR1 Polyclonal Antibody

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.,