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Reviewed October 2012
What is the official name of the SLC40A1 gene?
The official name of this gene is “solute carrier family 40 (iron-regulated transporter), member 1.”
SLC40A1 is the gene's official symbol. The SLC40A1 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 SLC40A1 gene?
The SLC40A1 gene provides instructions for making a protein called ferroportin. This protein is involved in the process of iron absorption in the body. Iron from the diet is absorbed through the walls of the small intestine. Ferroportin then transports iron from the small intestine into the bloodstream, and the iron is carried by the blood to the tissues and organs of the body. Ferroportin also transports iron out of specialized immune system cells (called reticuloendothelial cells) that are found in the liver, spleen, and bone marrow. The amount of iron absorbed by the body depends on the amount of iron stored and released from intestinal and reticuloendothelial cells.
Research suggests that the amount of ferroportin available to transport iron out of cells is controlled by another iron regulatory protein, hepcidin. Hepcidin binds to ferroportin and causes it to be broken down when the body's iron supplies are adequate. When the body is lacking iron, hepcidin levels drop and more ferroportin is available to bring iron into the body and to release it from storage.
Does the SLC40A1 gene share characteristics with other genes?
The SLC40A1 gene 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 SLC40A1 gene related to health conditions?
Where is the SLC40A1 gene located?
Cytogenetic Location: 2q32
Molecular Location on chromosome 2: base pairs 189,560,590 to 189,580,811
The SLC40A1 gene is located on the long (q) arm of chromosome 2 at position 32.
More precisely, the SLC40A1 gene is located from base pair 189,560,590 to base pair 189,580,811 on chromosome 2.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about SLC40A1?
You and your healthcare professional may find the following resources about SLC40A1 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 SLC40A1 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 SLC40A1?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (19 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.