| Modification Notes |
BTR1 (Bicarbonate transporter-related protein 1), also known as sodium bicarbonate transporter-like protein 11, sodium-coupled borate cotransporter 1 (NaBC1) or solute carrier family 4 member 11 (SLC4A11), belongs to the anion exchanger family of proteins. BTR1 is ubiquitously expressed, localizes to the plasma membrane and exists as a multi-pass membrane protein. It functions as an electrogenic Na+-dependent borate transporter and is essential for cell growth, proliferation and borate homeostasis. In the absence of borate, BTR1 functions as a conductive transporter, permeable to Na+ and H+. Several different mutations in BTR1 result in recessive congenital hereditary endothelial dystrophy (CHED2), a rare eye disorder characterized by corneal opacification and involuntary eye movement (nystagmus). |