Reviewed April 2009
What is the official name of the ABCB7 gene?
The official name of this gene is “ATP binding cassette subfamily B member 7.”
ABCB7 is the gene's official symbol. The ABCB7 gene is also known by other names, listed below.
What is the normal function of the ABCB7 gene?
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.
Does the ABCB7 gene share characteristics with other genes?
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 (ATPases).
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.
How are changes in the ABCB7 gene related to health conditions?
- X-linked sideroblastic anemia and ataxia - caused by mutations in the ABCB7 gene
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.
Where is the ABCB7 gene located?
Cytogenetic Location: Xq13.3
Molecular Location on the X chromosome: base pairs 75,053,172 to 75,156,340
(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (http://www.ncbi.nlm.nih.gov/gene/22))
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 75,053,172 to base pair 75,156,340 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.
Where can I find additional information about ABCB7?
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.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=%28ABCB7%5BTIAB%5D%29%20OR%20%28%28ABC7%5BTIAB%5D%29%20OR%20%28Atm1p%5BTIAB%5D%29%29%20AND%20%28%28Genes%5BMH%5D%29%20OR%20%28Genetic%20Phenomena%5BMH%5D%29%29%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%203600%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/300135)
Research Resources - Tools for researchers
- HGNC Gene Family: ATP binding cassette subfamily B (http://www.genenames.org/cgi-bin/genefamilies/set/806)
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=48)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/22)
What other names do people use for the ABCB7 gene or gene products?
- ABC transporter 7 protein
- ATP-binding cassette 7
- ATP-binding cassette, sub-family B (MDR/TAP), member 7
- ATP-binding cassette, sub-family B, member 7
- ATP-binding cassette sub-family B member 7, mitochondrial
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding ABCB7?
amino acid ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Allikmets R, Raskind WH, Hutchinson A, Schueck ND, Dean M, Koeller DM. Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A). Hum Mol Genet. 1999 May;8(5):743-9. (http://www.ncbi.nlm.nih.gov/pubmed/10196363?dopt=Abstract)
- Bekri S, Kispal G, Lange H, Fitzsimons E, Tolmie J, Lill R, Bishop DF. Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation. Blood. 2000 Nov 1;96(9):3256-64. (http://www.ncbi.nlm.nih.gov/pubmed/11050011?dopt=Abstract)
- Cavadini P, Biasiotto G, Poli M, Levi S, Verardi R, Zanella I, Derosas M, Ingrassia R, Corrado M, Arosio P. RNA silencing of the mitochondrial ABCB7 transporter in HeLa cells causes an iron-deficient phenotype with mitochondrial iron overload. Blood. 2007 Apr 15;109(8):3552-9. Epub 2006 Dec 27. (http://www.ncbi.nlm.nih.gov/pubmed/17192393?dopt=Abstract)
- Maguire A, Hellier K, Hammans S, May A. X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L. Br J Haematol. 2001 Dec;115(4):910-7. (http://www.ncbi.nlm.nih.gov/pubmed/11843825?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/22)
- Pondarré C, Antiochos BB, Campagna DR, Clarke SL, Greer EL, Deck KM, McDonald A, Han AP, Medlock A, Kutok JL, Anderson SA, Eisenstein RS, Fleming MD. The mitochondrial ATP-binding cassette transporter Abcb7 is essential in mice and participates in cytosolic iron-sulfur cluster biogenesis. Hum Mol Genet. 2006 Mar 15;15(6):953-64. Epub 2006 Feb 8. (http://www.ncbi.nlm.nih.gov/pubmed/16467350?dopt=Abstract)
- Pondarre C, Campagna DR, Antiochos B, Sikorski L, Mulhern H, Fleming MD. Abcb7, the gene responsible for X-linked sideroblastic anemia with ataxia, is essential for hematopoiesis. Blood. 2007 Apr 15;109(8):3567-9. Epub 2006 Dec 27. (http://www.ncbi.nlm.nih.gov/pubmed/17192398?dopt=Abstract)
- Shimada Y, Okuno S, Kawai A, Shinomiya H, Saito A, Suzuki M, Omori Y, Nishino N, Kanemoto N, Fujiwara T, Horie M, Takahashi E. Cloning and chromosomal mapping of a novel ABC transporter gene (hABC7), a candidate for X-linked sideroblastic anemia with spinocerebellar ataxia. J Hum Genet. 1998;43(2):115-22. (http://www.ncbi.nlm.nih.gov/pubmed/9621516?dopt=Abstract)
- Taketani S, Kakimoto K, Ueta H, Masaki R, Furukawa T. Involvement of ABC7 in the biosynthesis of heme in erythroid cells: interaction of ABC7 with ferrochelatase. Blood. 2003 Apr 15;101(8):3274-80. Epub 2002 Dec 12. (http://www.ncbi.nlm.nih.gov/pubmed/12480705?dopt=Abstract)
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
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.