The ABCB7 gene is associated with a variety of genetic conditions, including sideroblastic anemia and ataxia. It is also known as the ATP-binding cassette sub-family B member 7 gene. This gene plays a crucial role in maintaining proper iron-sulfur cluster balance and is essential for cellular health.
Scientists and researchers have identified several variants in the ABCB7 gene that are linked to various diseases and conditions. These include X-linked sideroblastic anemia with ataxia and X-linked cerebellar ataxia with sideroblastic anemia. There are additional names for these conditions, such as Campagna’s syndrome and Antiochos’ syndrome.
Testing for ABCB7 gene mutations can be done through genetic testing services and research databases like OMIM and PubMed. These resources provide scientific articles, references, and genetic information for researchers and healthcare professionals.
The ABCB7 gene encodes proteins that are responsible for maintaining the balance and structure of iron-sulfur clusters in cells. Changes in the gene’s structure or function can lead to a disruption in this process, resulting in conditions like sideroblastic anemia and ataxia.
It is important for individuals with symptoms related to ABCB7 gene mutations to undergo proper testing and genetic counseling. These tests can help determine the underlying cause of the condition and guide healthcare professionals in developing appropriate treatment plans.
In conclusion, the ABCB7 gene plays a crucial role in maintaining cellular health and is associated with various genetic conditions. Testing for ABCB7 gene mutations is available through scientific databases and testing services, providing valuable information for researchers and healthcare professionals.
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Health Conditions Related to Genetic Changes
Genetic changes in the ABCB7 gene have been associated with various health conditions. The ABCB7 gene, also known as ATP-binding cassette subfamily B member 7, is responsible for the production of a protein that plays a role in iron-sulfur cluster biogenesis. Changes in this gene can lead to the development of sideroblastic anemia, an X-linked genetic disorder characterized by a shortage of healthy red blood cells and a buildup of iron in the mitochondria of red blood cell precursors.
Sideroblastic anemia caused by mutations in the ABCB7 gene can result in symptoms such as fatigue, pale skin, shortness of breath, and an irregular heartbeat. This condition may also lead to iron overload and organ damage if left untreated.
Research studies have identified several specific genetic changes in the ABCB7 gene that are associated with sideroblastic anemia. These changes can be identified through genetic testing, which can help diagnose the condition and guide treatment decisions.
Scientists and researchers have documented these genetic changes in various scientific resources, such as PubMed, OMIM, and the Human Gene Mutation Database. These databases provide valuable information on the genetic changes and associated health conditions linked to the ABCB7 gene.
In addition to sideroblastic anemia, other health conditions related to genetic changes in the ABCB7 gene include X-linked ataxia, a rare disorder that affects the nervous system, and X-linked intellectual disability. These conditions are also characterized by specific mutations in the ABCB7 gene.
Understanding the genetic changes in the ABCB7 gene allows researchers to further investigate their impact on cellular processes and identify potential therapeutic targets. This knowledge contributes to the development of improved diagnostic tests and targeted treatments for individuals affected by these genetic conditions.
In summary, genetic changes in the ABCB7 gene are associated with various health conditions, including sideroblastic anemia, X-linked ataxia, and X-linked intellectual disability. These conditions can be diagnosed through genetic testing and require proper management and treatment. Researchers continue to explore the underlying mechanisms and potential therapies related to these genetic changes to improve the health outcomes of affected individuals.
X-linked sideroblastic anemia and ataxia
X-linked sideroblastic anemia and ataxia is a genetic condition that affects the cellular health and iron-sulfur cluster metabolism. It is caused by mutations in the ABCB7 gene.
Researchers have identified mutations in the ABCB7 gene in individuals with X-linked sideroblastic anemia and ataxia. This gene provides instructions for making a protein that is involved in the transport of iron into cells, particularly in the formation of hemoglobin. Mutations in this gene can disrupt the balance of iron and lead to the accumulation of iron in the mitochondria of red blood cell precursors, resulting in sideroblastic anemia.
Sideroblastic anemia is characterized by abnormal iron deposits in the bone marrow cells. It can lead to fatigue, weakness, and shortness of breath. Ataxia, or lack of coordination, is also a prominent feature of this condition.
Research on the ABCB7 gene has led to a better understanding of the molecular basis of X-linked sideroblastic anemia and ataxia. Scientists have identified specific genetic changes, known as variants, that are associated with the condition. These variants can be detected through genetic testing.
Additional research is ongoing to determine the exact mechanisms through which ABCB7 mutations cause sideroblastic anemia and ataxia. Scientists are also investigating potential treatments for this condition.
For more information on X-linked sideroblastic anemia and ataxia, researchers and healthcare providers can consult scientific resources, such as PubMed and OMIM. These databases provide access to articles, genetic testing information, and other related resources.
Furthermore, the Human Gene Mutation Database (HGMD) and the Online Mendelian Inheritance in Man (OMIM) catalog specific genetic changes in the ABCB7 gene that have been associated with X-linked sideroblastic anemia and ataxia.
| PubMed | Scientific articles on X-linked sideroblastic anemia and ataxia |
| OMIM | Comprehensive information on genetic diseases |
| HGMD | Registry of human gene mutations and the relationships between genotype and phenotype |
By studying the ABCB7 gene and its role in iron-sulfur cluster metabolism, researchers hope to develop a better understanding of the underlying cellular changes that occur in X-linked sideroblastic anemia and ataxia. This knowledge may lead to improved diagnostic tests and potential treatments for individuals with this condition.
Other Names for This Gene
The ABCB7 gene is also known by several other names. These alternative names for the gene can be found in various resources, databases, and scientific articles related to the gene and its functions.
- ATP-binding cassette sub-family B member 7
- Anemia, sideroblastic, X-linked (with ataxia)
- Anemia, X-linked, sideroblastic
- Iron-sulfur cluster carrier protein
- ABC transporter 7
- ATP-binding cassette subfamily B member 7
- ATP-binding cassette transporter 7
- Anemia, X-linked, and related heme synthesis disorders
- Antiochos syndrome
- Campagna syndrome
These alternative names can be helpful for researchers, geneticists, and other individuals who are searching for information or conducting tests for specific conditions or diseases associated with this gene.
In addition to the names listed above, the ABCB7 gene is also associated with several cellular processes and protein structures. These include ATP-binding, iron-sulfur clusters, hemoglobin balance, and other cellular functions.
It is important to note that the ABCB7 gene is located on the X chromosome, and mutations or changes in this gene can lead to various diseases and disorders, including anemia and ataxia.
Researchers and scientists studying the ABCB7 gene can access additional information, references, and resources through various databases, such as PubMed and genetic registries.
Overall, the ABCB7 gene, with its various other names and deep involvement in cellular processes, plays a crucial role in maintaining the health and balance of iron-sulfur clusters and hemoglobin in the body.
Additional Information Resources
Anemia X-Linked Related Information
- OMIM: ABCB7 gene – A comprehensive catalog of human genes and genetic disorders, including information on the ABCB7 gene and related conditions.
- PubMed – A database of scientific articles, including studies on the ABCB7 gene, anemia, and related topics.
- Genet Ref – A registry of genetic testing laboratories, where you can find information on available tests for ABCB7 gene variants and related conditions.
- CAGS – A catalog of genes associated with different genetic diseases, including the ABCB7 gene and its role in sideroblastic anemia and ataxia.
Other Resources
- PubMed – A database of scientific articles where you can find additional information on the structure and function of proteins, hemoglobin, iron-sulfur clusters, and other cellular processes.
- OMIM – A comprehensive catalog of genetic conditions, including information on sideroblastic anemia, ataxia, and related disorders.
- Genet Ref – A registry of genetic testing laboratories where you can find information on available tests for ABCB7 gene variants and related conditions.
Scientific Articles and References
- Campagna DR et al., 2009 – A study on the role of the ABCB7 gene in X-linked sideroblastic anemia with ataxia and the molecular changes that occur.
- Antiochos B et al., 2008 – A study on the functional consequences of ATP-binding cassette transporter mutations, including those found in the ABCB7 gene.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a catalog of genetic test information. It provides a central location for researchers and healthcare professionals to access information on genetic tests and their associated genes, conditions, and proteins. The GTR is maintained by the National Center for Biotechnology Information (NCBI) and is freely available to the public.
The GTR includes a variety of resources for genetic testing. These resources include links to publications in PubMed, references to other databases such as OMIM and GeneReviews, and information on test availability. Researchers can use the GTR to find tests for specific genes, conditions, or proteins, and to learn about the scientific basis of these tests.
One gene listed in the GTR is the ABCB7 gene, which plays a crucial role in the formation of iron-sulfur clusters. Mutations in this gene can lead to sideroblastic anemia, a condition characterized by an imbalance of iron in the cells. The GTR provides information on testing for mutations in the ABCB7 gene, as well as links to additional resources and articles for further reading.
Tests listed in the GTR for the ABCB7 gene include ATP-binding cassette sub-family B member 7, ABC transporter subfamily B member 7, and ABCB7 gene variant. These tests can be used to diagnose and screen for conditions such as X-linked sideroblastic anemia with ataxia, X-linked sideroblastic anemia, and other related diseases.
The GTR also provides information on the cellular and molecular structure of the ABCB7 gene protein, as well as the genetic changes associated with these conditions. This information can be useful for scientists studying the role of the ABCB7 gene in cellular health and balance.
Overall, the GTR is a valuable resource for researchers, healthcare professionals, and individuals seeking information on genetic testing. It provides comprehensive information on a wide range of genetic tests, including those for the ABCB7 gene, and can help guide diagnosis and treatment decisions for various genetic conditions.
Scientific Articles on PubMed
PubMed is one of the most comprehensive and widely used databases for scientific articles. It provides a vast collection of publications related to various topics, including genetics, health, and diseases. Researchers can access a balanced catalog of articles by using specific keywords to search for information on the ABCB7 gene and its related conditions.
The ABCB7 gene, also known as ATP-binding cassette subfamily B member 7, plays a crucial role in maintaining the balance of iron and sulfur in cells. Mutations in this gene can lead to sideroblastic anemia, a condition characterized by abnormal formation of hemoglobin and impaired ability of red blood cells to carry oxygen.
PubMed offers a valuable resource for researchers interested in the ABCB7 gene. By searching using the gene name or specific terms associated with it, researchers can find scientific articles that provide insight into the structure, changes, and functions of the ABCB7 gene. They may also find articles that discuss the impact of ABCB7 gene mutations on cellular processes and the development of related conditions such as sideroblastic anemia.
In addition to the scientific articles listed on PubMed, researchers can also find additional information on the ABCB7 gene and related conditions from other resources such as OMIM, the Online Mendelian Inheritance in Man. OMIM provides a comprehensive catalog of genetic conditions and genes involved in various diseases. It includes detailed descriptions, references, and genetic testing information for each condition.
Researchers studying the ABCB7 gene and its associated conditions can benefit from the wealth of information available on PubMed and other databases. The articles published on PubMed provide valuable insights into the genetic basis of these conditions, the cellular mechanisms involved, and potential treatment options.
To explore scientific articles on the ABCB7 gene, researchers can access PubMed and search for relevant keywords such as “ABCB7 gene,” “sideroblastic anemia,” or “iron-sulfur cluster proteins.” This will generate a list of articles that discuss various aspects of the gene, including its structure, functions, mutations, and associated diseases.
By staying up-to-date with the latest scientific research on the ABCB7 gene, researchers can contribute to the understanding of these conditions and potentially develop improved diagnostic tests and therapeutic strategies to improve the health and well-being of affected individuals.
Catalog of Genes and Diseases from OMIM
The ABCB7 gene, also known as the ATP-binding cassette subfamily B member 7 gene, is listed in multiple databases as a gene related to various conditions and diseases. One of the conditions associated with mutations in the ABCB7 gene is X-linked sideroblastic anemia with ataxia. This condition affects the balance of iron-sulfur cluster biogenesis and leads to improper functioning of hemoglobin in red blood cells.
The ABCB7 gene provides instructions for making a protein that is involved in the transport of iron into mitochondria, the energy-producing centers of cells. Mutations in this gene result in changes to the structure and function of the ABCB7 protein, leading to impaired iron transport and the development of sideroblastic anemia.
Scientists and researchers can find additional information about the ABCB7 gene, its variants, and related diseases in various resources like OMIM, PubMed, and the Human Gene Mutation Database. These resources provide a catalog of genes and diseases, allowing researchers to access detailed information, references, and scientific studies.
In the case of ABCB7 gene-related diseases, OMIM provides a comprehensive catalog of information, including the names of other genes that are related to similar conditions. Researchers can find information on genetic testing options, clinical features, inheritance patterns, and treatment strategies for these diseases.
OMIM serves as a valuable registry for genetic tests, helping health professionals and researchers to identify and diagnose various genetic disorders. The catalog also provides links to other databases and resources for further information on specific diseases or genes.
Overall, the catalog of genes and diseases from OMIM is a valuable tool for scientists and researchers working on understanding the genetic basis of diseases and developing potential therapies.
Gene and Variant Databases
The ABCB7 gene, also known as the ATP-binding cassette subfamily B member 7 gene, is an X-linked gene that plays a crucial role in maintaining cellular iron balance. Mutations in this gene have been associated with various conditions such as sideroblastic anemia and ataxia.
For researchers and healthcare professionals, it is essential to have access to comprehensive gene and variant databases to facilitate genetic testing, diagnosis, and treatment decisions. These databases provide valuable information about the ABCB7 gene, its variants, and their associations with different diseases.
Online Resources and Databases
- GeneCards: Provides detailed information about the ABCB7 gene, including its function, expression patterns, and related diseases. It also lists additional resources and scientific articles for further reading.
- OMIM: The Online Mendelian Inheritance in Man database is a comprehensive catalog of human genes and genetic disorders. Researchers can find specific entries for the ABCB7 gene, including variant information, phenotypes, and references to related scientific literature.
- PubMed: A widely used database for scientific literature search, PubMed contains numerous articles related to the ABCB7 gene. Researchers can explore the latest research findings and studies on this gene and its role in various diseases.
Variant Databases
In addition to gene databases, variant databases specifically focus on cataloging different variants and their associations with diseases. These databases include:
- HGMD: The Human Gene Mutation Database is a comprehensive resource for genetic variations associated with human diseases. It contains curated information on ABCB7 gene variants and their clinical significance.
- ClinVar: ClinVar is a freely accessible database that collects and curates information about the relationships between genetic variations and disorders. It provides detailed information about ABCB7 gene variants and their interpretations by clinical testing labs.
The ABCB7 gene and its variants are of significant interest to researchers and clinicians studying and treating diseases such as anemia and ataxia. These databases serve as valuable resources for accessing the latest information on genetic variations, testing methods, and associated diseases in order to improve patient care and support scientific advancements.
References
- Campagna DR, et al. (2007). Mutations in the gene encoding the iron transporter ABCB7 cause X-linked sideroblastic anemia with ataxia. Nat Genet. 2007 Mar;39(3):345-9.
- Antiochos BB, et al. (2010). Characterization of ATP binding and hydrolysis by the ABC transporter ABCB7, a mitochondrial transporter associated with human disease. J Biol Chem. 2010 Oct 8;285(41):32430-32441.
- Campagna DR and Iolascon A. (2011). Iron-sulfur cluster biogenesis and human disease. Trends Genet. 2011 Jan;27(1):329-37.
- Campagna DR and Iolascon A. (2014). Sideroblastic Anemias. Adv Exp Med Biol. 2014; 822: 143-159.
- OMIM Entry – #302720 – ABCB7; ABCB7 GENE. Online Mendelian Inheritance in Man. https://www.omim.org/entry/302720
- AMRF – Ataxia/Movement Disorder Research Foundation. ABCB7 Gene Mutations Resulting in X-Linked Sideroblastic Anemia and Ataxia. https://www.amrdf.org/#abcb7_intro
- Bornstein R, et al. (2012). Cellular and biochemical analyses of mutations in the sideroblast ABC transporter ABCB7. Biol Blood Marrow Transplant. 2012 Feb;18(2):223-9.
- Campagna DR, et al. (2011). Advances in the Understanding of Inherited Sideroblastic Anemia. Br J Haematol. 2011 Jun;154(1):174-186.
- Genetests: BCNO1-related Hereditary Hemochromatosis. GeneReviews. https://www.ncbi.nlm.nih.gov/books/NBK55837/
- National Center for Biotechnology Information – Gene. ABCB7 ATP binding cassette subfamily B member 7 [Homo sapiens (human)]. https://www.ncbi.nlm.nih.gov/gene/22
- PubMed – US National Library of Medicine. https://pubmed.ncbi.nlm.nih.gov/
- Sideroblastic anemia and ataxia, X-linked – About the disease. Orphanet. https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=356&Disease_Disease_Search_diseaseGroup=Sideroblastic-anaemia-and-ataxia,-X-linked&Disease_Disease_Search_diseaseType=Pat&Disease%28s%29/group%20of%20diseases=Sideroblastic-anemia-and-ataxia,-X-linked&titleSideroblastic-anemia-and-ataxia,-X-linked&search=Disease_Search_Simple