SLC4A1 : solute carrier family 4 member 1 (Diego blood group)

Description

The SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) is a protein-coding gene located on chromosome 17.

The SLC4A1 gene provides instructions for making a protein known as anion exchanger 1 (AE1). This protein transports negatively charged atoms (anions) across cell membranes. Specifically, AE1 exchanges negatively charged atoms of chlorine (chloride ions) for negatively charged bicarbonate molecules (bicarbonate ions). Based on this function, AE1 is known as a chloride/bicarbonate exchanger (Cl-/HCO3- exchanger). The main function of this exchanger is to maintain the correct acid levels (pH) in the body.There are two versions of the AE1 protein that differ in size. The shorter version is found in specialized kidney cells, called alpha-intercalated cells, that line structures in the kidney called renal tubules. The renal tubules reabsorb substances that are needed and eliminate unneeded substances in urine. Specifically, alpha-intercalated cells release acid into the urine to be removed from the body. In alpha-intercalated cells, the exchange of bicarbonate through the AE1 protein allows acid to be released from the cell into the urine.The longer version of AE1 is found in red blood cells. In addition to exchanging ions, the longer AE1 protein attaches to other proteins that make up the structural framework (the cytoskeleton) of red blood cells, helping to maintain their structure. In red blood cells, the AE1 protein can interact with another protein called glycophorin A, which helps ensure AE1 gets moved (trafficked) to the correct location of the cell. Glycophorin A is not found in kidney cells.

The SLC4A1 gene encodes for a protein called anion exchanger 1 (AE1), which functions as a transporter that mediates electroneutral anion exchange across the cell membrane and also acts as a structural protein. AE1 is essential for the normal flexibility and stability of the erythrocyte membrane, and its cytoplasmic domain interacts with cytoskeletal proteins, glycolytic enzymes, and hemoglobin, contributing to the normal shape of red blood cells. AE1 facilitates the 1:1 exchange of inorganic anions across the erythrocyte membrane and mediates chloride-bicarbonate exchange in the kidney, playing a crucial role in the normal acidification of urine.

SLC4A1 is also known as AE1, BND3, CD233, CHC, DI, EMPB3, EPB3, FR, RTA1A, SAO, SPH4, SW, WD, WD1, WR.

Associated Diseases

Comprehensive carrier screening

WES Whole Exome Sequencing

Clinical Exome Sequencing