| Modification Notes |
SLC4A7 (solute carrier family 4 member 7), also known as sodium bicarbonate cotransporter 3, is a 1,214 amino acid multi-pass membrane protein that mediates the movement of sodium and bicarbonate across the cell membrane. Studies in mice have shown that hydrogen ion disposal mediated by SLC4A7 is essential for auditory and visual systems, therefore, defects in the gene encoding SLC4A7 may result in the human manifestation of Usher syndrome, a leading cause of deafblindness. With highest expression in spleen and testis, SLC4A7 is also expressed in a variety of other tissues, including brain, skeletal muscle and heart. Due to its critical role in intracellular pH regulation, SLC4A7 is notably affected by hypoxic states during which protein levels are decreased, presumably for reduction of energy consumption. There are five isoforms of SLC4A7 that exist as a result of alternative splicing events. |