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Reviewed August 2014
What is the official name of the SLC4A1 gene?
The official name of this gene is “solute carrier family 4 (anion exchanger), member 1 (Diego blood group).”
SLC4A1 is the gene's official symbol. The SLC4A1 gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the SLC4A1 gene?
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.
Does the SLC4A1 gene share characteristics with other genes?
The SLC4A1 gene belongs to a family of genes called blood group (blood group antigens). It also belongs to a family of genes called CD (CD molecules). It also belongs to a family of genes called SLC (solute carriers).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.
How are changes in the SLC4A1 gene related to health conditions?
Genetics Home Reference provides information about hereditary spherocytosis, which is also associated with changes in the SLC4A1 gene.
Where is the SLC4A1 gene located?
Cytogenetic Location: 17q21.31
Molecular Location on chromosome 17: base pairs 44,248,390 to 44,268,161
The SLC4A1 gene is located on the long (q) arm of chromosome 17 at position 21.31.
More precisely, the SLC4A1 gene is located from base pair 44,248,390 to base pair 44,268,161 on chromosome 17.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about SLC4A1?
You and your healthcare professional may find the following resources about SLC4A1 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the SLC4A1 gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding SLC4A1?
acidosis ; acids ; anemia ; anion ; autosomal ; autosomal dominant ; autosomal recessive ; bicarbonate ; breakdown ; calcium ; carrier ; cell ; cell membrane ; chloride ; cytoskeleton ; distal ; enlarged spleen ; erythrocyte ; gene ; hemolytic anemia ; hereditary ; inheritance ; inheritance pattern ; ions ; jaundice ; kidney ; kidney stones ; malaria ; mutation ; Na ; neurological ; pH ; potassium ; protein ; recessive ; red blood cell ; renal ; sodium ; solute ; splenomegaly
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (10 links)
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.