|http://ghr.nlm.nih.gov/ A service of the U.S. National Library of Medicine®|
The official name of this gene is “ATP-binding cassette, sub-family B (MDR/TAP), member 7.”
ABCB7 is the gene's official symbol. The ABCB7 gene is also known by other names, listed below.
The ABCB7 gene provides instructions for making a protein known as an ATP-binding cassette (ABC) transporter. ABC transporter proteins carry many types of molecules across membranes in cells.
The ABCB7 protein is located in the inner membrane of cell structures called mitochondria. Mitochondria are involved in a wide variety of cellular activities, including energy production, chemical signaling, and regulation of cell growth and division. In the mitochondria of developing red blood cells (erythroblasts), the ABCB7 protein plays a critical role in the production of heme. Heme contains iron and is a component of hemoglobin, the protein that carries oxygen in the blood.
The ABCB7 protein is also involved in the formation of certain proteins containing clusters of iron and sulfur atoms (Fe-S clusters). Researchers suspect that the ABCB7 protein transports Fe-S clusters from mitochondria, where they are formed, to the surrounding cellular fluid (cytosol), where they can be incorporated into proteins. Overall, researchers believe that the ABCB7 protein helps maintain an appropriate balance of iron (iron homeostasis) in developing red blood cells.
The ABCB7 gene belongs to a family of genes called ABC (ATP-binding cassette transporters). It also belongs to a family of genes called ATP (ATPase superfamily).
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? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.
At least three mutations in the ABCB7 gene have been identified in people with X-linked sideroblastic anemia with ataxia. Each of these mutations changes a single protein building block (amino acid) in the ABCB7 protein, slightly altering its structure. These changes disrupt the protein's usual role in heme production and iron homeostasis. Anemia results when heme cannot be produced normally, and therefore not enough hemoglobin is made. It is unclear how changes in the ABCB7 gene lead to problems with coordination and balance (ataxia) and other movement abnormalities.
Cytogenetic Location: Xq13.3
Molecular Location on the X chromosome: base pairs 75,053,171 to 75,156,339
The ABCB7 gene is located on the long (q) arm of the X chromosome at position 13.3.
More precisely, the ABCB7 gene is located from base pair 75,053,171 to base pair 75,156,339 on the X chromosome.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about ABCB7 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
amino acid ; anemia ; ataxia ; ATP ; cell ; cytosol ; gene ; heme ; hemoglobin ; homeostasis ; iron ; mitochondria ; oxygen ; protein
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).
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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.