Also known as
AE1, BND3, CD233, CHC, DI, EMPB3, EPB3, FR, RTA1A, SAO, SPH4, SW, WD, WD1, WR
SLC4A1 (solute carrier family 4 member 1, Diego blood group) is a gene that codes for a protein called the sodium-bicarbonate cotransporter 1 (NBC1). NBC1 is a membrane protein that transports bicarbonate ions (HCO3-) into cells and is important for maintaining the balance of acids and bases in the body. NBC1 is expressed in a variety of tissues, including the kidney, pancreas, and liver, and plays a role in several physiological processes, such as electrolyte homeostasis, pH regulation, and insulin secretion. Mutations in the SLC4A1 gene can cause a variety of inherited disorders, including distal renal tubular acidosis (dRTA), an inherited disorder of the kidney that affects acid-base balance in the body, and hereditary spherocytosis, an inherited disorder of the red blood cells that can cause anemia. In addition, the SLC4A1 gene has been shown to be involved in the development of the nervous system during fetal development.
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