Immunogen sequence: MSQVGGRGDR CTQEVQGLVH GAGDLSASLA ENSPTMSQNG YFEDSSYYKC DTDDTFEARE EILGDEAFDT ANSSIVSGES IRFFVNVNLE MQATNTENEA TSGGCVLLHT SRKYLKLKNF KEEIRAHRDL DGFLAQASIV LNETATSLDN VLRTMLRRFA RDPDNNEPNC NLDLLMAMLF; Positive Samples: 293T, Mouse kidney; Cellular Location: Cell membrane, Membrane, Multi-pass membrane protein
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.
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Protein Aliases: bicarbonate transporter related protein 1; Bicarbonate transporter-related protein 1; CDPD; MGC126418; MGC126419; NaBC1; OTTHUMP00000030097; Sodium bicarbonate transporter-like protein 11; Sodium borate cotransporter 1; sodium-coupled borate cotransporter 1; Solute carrier family 4 member 11; solute carrier family 4, sodium bicarbonate transporter-like, member 11; solute carrier family 4, sodium borate transporter, member 11
Gene Aliases: AI503023; BTR1; CDPD1; CHED; CHED2; dJ794I6.2; NABC1; SLC4A11
Molecular Function: transporter