The ABCC9 gene is a part of the ATP-binding cassette (ABC) gene family, which is involved in the transport of various molecules across cell membranes. It is located on chromosome 12 and encodes the sulfonylurea receptor 2 (SUR2) protein.
The ABCC9 gene is primarily expressed in muscle tissues, including the heart and skeletal muscles. Mutations in this gene have been found to cause genetic disorders such as Cantú syndrome, dilated cardiomyopathy, atrial fibrillation, and other related syndromes.
Research articles about the ABCC9 gene can be found in scientific databases like PubMed. These articles provide information on the structure and function of the ABCC9 gene, as well as its role in various diseases and disorders. Additional resources can be found in the OMIM gene registry and other genetic databases, which list the names and associated information of genes and their related conditions.
Testing for mutations in the ABCC9 gene can be performed to help diagnose and determine the cause of certain health conditions. These tests can be particularly useful for individuals with a family history of cardiac disorders, as mutations in the ABCC9 gene have been specifically linked to familial dilated cardiomyopathy and atrial fibrillation.
Overall, the ABCC9 gene and its associated protein play a significant role in the regulation of ion channels in muscle tissues. Identifying genetic changes in this gene can provide important insights into the development and progression of various cardiac and muscular disorders.
Health Conditions Related to Genetic Changes
The ABCC9 gene, also known as the ATP-binding cassette sub-family C member 9 gene, plays a role in various health conditions. Genetic changes in this gene can be associated with certain disorders and diseases.
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- Dilated Cardiomyopathy: Genetic changes in the ABCC9 gene have been identified as a cause of dilated cardiomyopathy. This condition is characterized by the enlargement of the heart chambers, leading to impaired muscle function and potential heart failure.
- Familial Atrial Fibrillation: Mutations in the ABCC9 gene can also be linked to familial atrial fibrillation, a type of irregular heart rhythm. This condition is often characterized by rapid and chaotic contractions of the atrial muscles.
- Cantú Syndrome: Certain genetic changes in the ABCC9 gene have been associated with Cantú syndrome. This rare genetic disorder affects various tissues and can lead to abnormalities in the cardiovascular system, skeletal muscles, and other organs.
- Muscle Disorders: Genetic variations in the ABCC9 gene have been found to contribute to certain muscle disorders. These may include conditions such as myopathy or neuromuscular diseases.
Testing for genetic changes in the ABCC9 gene can be done through genetic testing and analysis. Various databases and registries, such as OMIM and PubMed, provide information about the identified variants and their association with different health conditions.
Scientific articles, publications, and references are available to further explore the relationship between ABCC9 gene changes and the various health conditions listed above. Health professionals can conduct tests and evaluations to determine the presence of genetic changes in this gene and their potential implications for individuals.
Further research is still being carried out to better understand the role and impact of ABCC9 gene variations on health conditions. Ongoing studies aim to uncover additional information about these genetic changes and their relevance to specific diseases.
Cantú syndrome
Cantú syndrome, also known as familial hypertrichosis-osteochondrodysplasia-cardiomegaly syndrome or Cantú-Kremp syndrome, is a rare genetic disorder characterized by a variety of symptoms affecting multiple organ systems.
The syndrome is caused by mutations in the ABCC9 gene, which codes for proteins involved in the regulation of potassium channels. These channels are responsible for controlling the movement of potassium ions across cell membranes, particularly in muscles and the heart.
Individuals with Cantú syndrome often have distinctive facial features, including thick lips, a wide nose, and a wide mouth. They may also have increased body hair (hypertrichosis), skeletal abnormalities, and enlarged internal organs, such as the heart (cardiomegaly) and liver.
Other symptoms can include intellectual disability, joint abnormalities, hearing loss, and feeding difficulties. The severity of symptoms can vary widely among individuals with the syndrome.
The diagnosis of Cantú syndrome is based on clinical features and genetic testing. Mutations in the ABCC9 gene can be identified through various genetic testing methods, including targeted sequencing and whole exome sequencing.
Treatment for Cantú syndrome is typically focused on managing the symptoms and associated health conditions. This can involve a multidisciplinary approach, with specialists from various medical fields, including cardiology, genetics, and developmental pediatrics.
As Cantú syndrome is a rare disorder, there are limited resources and support available. However, there are a few organizations and registries, such as the Cantú Syndrome Registry, where individuals and families affected by the syndrome can find more information, connect with others, and participate in research.
Additional scientific information about Cantú syndrome can be found in scientific articles and databases such as PubMed, OMIM (Online Mendelian Inheritance in Man), and various genetic databases. These resources provide information about the genetic changes associated with the syndrome, the genes and proteins involved, related diseases and conditions, and more.
Familial atrial fibrillation
Familial atrial fibrillation is a condition in which the ABCC9 gene is mutated, leading to abnormal functioning of ion channels proteins responsible for regulating the electrical activity of the heart muscle. This condition is also known as Cantú syndrome and can cause changes in the structure and function of the heart muscle.
ABCC9 gene, also known as the SUR2-encoded potassium channel, plays a crucial role in cardiac health. Mutations in this gene can lead to familial atrial fibrillation, dilated cardiomyopathy, and other related conditions.
Testing for familial atrial fibrillation can be done through genetic tests that identify mutations in the ABCC9 gene. Resources like OMIM and PubMed provide scientific articles, references, and additional information about the gene and related diseases.
A catalog of genetic disorders known to be caused by mutations in the ABCC9 gene is provided by the Genetests database. This catalog lists each disorder and provides information about the associated gene, testing, and health resources.
In familial atrial fibrillation, the ion channels of the ABCC9 gene may be either open or closed when they should be the opposite. This disruption in ion channel functioning causes irregular electrical signals in the heart muscle, leading to atrial fibrillation.
The SUR2 proteins, encoded by the ABCC9 gene, are subunits of a larger protein complex called the ATP-sensitive potassium (KATP) channel. These channels are found in various tissues of the body, including the heart, and are involved in regulating the flow of potassium ions.
Familial atrial fibrillation can be diagnosed through clinical evaluation, ECG testing, and genetic testing for mutations in the ABCC9 gene. The condition may also be associated with other cardiac disorders, such as dilated cardiomyopathy.
The familial atrial fibrillation registry provides information on individuals and families affected by this genetic disorder. It helps researchers and healthcare professionals understand the genetic basis and clinical presentation of the condition.
| 1. OMIM: https://www.omim.org/ |
| 2. PubMed: https://pubmed.ncbi.nlm.nih.gov/ |
| 3. Genetests: https://www.genetests.org/ |
Familial dilated cardiomyopathy
Familial dilated cardiomyopathy (FDC) is a genetic disorder characterized by the dilation and weakened function of the heart muscle. It is a familial condition, meaning it is passed down through generations within a family.
ABCC9 gene is one of the genes associated with FDC. This gene encodes one of the subunits of ATP-sensitive potassium (KATP) channels. Variants in the ABCC9 gene have been identified as a cause of FDC in some affected individuals.
To learn more about FDC, there are several resources available:
- OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genetic disorders, including FDC. You can find detailed information about FDC, associated genes, and related conditions on the OMIM website.
- Genetic Testing: Genetic testing can be used to identify specific genetic variants associated with FDC. This can help diagnose affected individuals, identify carriers, and assist in family planning. Consult a genetic counselor or healthcare provider for more information on available genetic tests for FDC.
- Scientific Articles: PubMed is a database of scientific articles and publications. Searching for keywords such as “Familial dilated cardiomyopathy” and “ABCC9 gene” can provide you with the latest research and findings on this topic.
- Registries and Databases: There are several registries and databases that collect data on individuals with FDC and related conditions. These resources can provide additional information on FDC, including patient registries, clinical trials, and genetic databases.
It is important to note that FDC is a complex condition, and the underlying genetic causes can vary among affected individuals. In addition to the ABCC9 gene, there may be other genes and genetic changes involved in FDC.
Understanding the genetic basis of FDC and related conditions is crucial for developing targeted treatments and improving patient outcomes. Ongoing research and clinical studies are essential to further our knowledge of FDC and develop effective therapies for affected individuals.
Other disorders
In addition to Cantú syndrome and dilated cardiomyopathy with atrial fibrillation, mutations in the ABCC9 gene have been identified in other familial and non-familial conditions. These conditions include:
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Familial Hyperinsulinemic Hypoglycemia (HHF1) – This is a genetic disorder characterized by excessive insulin secretion, resulting in low blood sugar levels. ABCC9 gene mutations can cause HHF1 by affecting the ATP-sensitive potassium (KATP) channels in pancreatic beta cells.
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Cantú syndrome-related disorders – These are genetic disorders related to Cantú syndrome, but with distinct clinical features. They include both overlapping and distinct phenotypes, such as cardiofaciocutaneous (CFC) syndrome, Noonan syndrome, and Costello syndrome. Mutations in the ABCC9 gene have been reported in individuals with these disorders.
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Dilated cardiomyopathy without atrial fibrillation – While the ABCC9 gene mutations primarily lead to dilated cardiomyopathy with atrial fibrillation, there have been rare cases where dilated cardiomyopathy occurs without atrial fibrillation. ABCC9 gene testing may be considered in such cases to identify potential underlying genetic causes.
Further research is ongoing to explore the full spectrum of disorders related to ABCC9 gene mutations and their underlying mechanisms. Resources such as OMIM, Genetests, PubMed, and other genetic databases provide additional information and references on these disorders, their genes, and their associated changes in the ABCC9 gene and its protein subunits. The Human Gene Mutation Database (HGMD) and ClinVar database are also valuable resources for variant information and scientific articles related to ABCC9 gene mutations and associated diseases.
It is important for healthcare professionals to stay updated on the latest scientific literature, as well as consult expert opinions and registries dedicated to specific disorders, in order to provide accurate and current information to patients and families seeking testing and information about ABCC9 gene-related disorders.
Other Names for This Gene
- ATP-binding cassette, sub-family C (CFTR/MRP), member 9
- Cardiomyopathy, dilated, 1O (autosomal recessive)
- Cardiomyopathy, familial hypertrophic, 11
- Casino allele
- High-dose sulfonylurea receptor
- KATP channel, cardiac muscle type
- KATP channel, non-cardiac muscle type
- Long QT syndrome 12
- Mitochondrial ATP-sensitive potassium channel
- NDPHE
- PHHI2
- RRMC
- sulfonylurea receptor 2
- sulfonylurea type 2 receptor
- sulfonylurea receptor2, ATP-binding cassette, sub-family C (CFTR/MRP), member 9
- ventricular fibrillation, familial, 3
Additional Information Resources
For additional information on the ABCC9 gene and related conditions, the following scientific resources can be helpful:
- GenNames – a catalog of genetic names and symbols for genes and proteins.
- OMIM (Online Mendelian Inheritance in Man) – a comprehensive database that provides information on genetic disorders, their genes, and the relationships between them.
- Genetests – a free-access, online resource that provides information on genetic testing for various diseases and syndromes.
- PubMed – a database of scientific articles and research papers on various topics, including genetics and related fields.
- Familial Dilated Cardiomyopathy Registry – an open-access registry that aims to collect and provide information on familial dilated cardiomyopathy and related conditions.
These resources can provide information about the ABCC9 gene, its associated disorders, genetic testing options, and scientific research related to these conditions. By accessing these databases and research articles, individuals and healthcare professionals can stay updated on the latest findings and advancements in this field.
Tests Listed in the Genetic Testing Registry
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The Genetic Testing Registry lists several tests related to the ABCC9 gene. This gene is involved in various conditions such as fibrillation, cardiomyopathy, and atrial muscle disorders. The registry catalogs genes and diseases, providing information on the known tests, scientific articles, and references related to these conditions.
Some of the tests listed in the registry include those for familial atrial fibrillation, Cantu syndrome, and dilated cardiomyopathy. The gene ABCC9 is identified as the causal gene for these disorders. Additional tests and variants of this gene are also listed, providing important information for health professionals and researchers.
The registry provides detailed information on the specific tests available, which includes changes in the ABCC9 gene and related proteins. It also references scientific articles and databases such as OMIM and PubMed, offering additional resources for further research.
Health professionals can find information on the different testing options for ABCC9 gene-related conditions, helping them make informed decisions about patient care. The registry serves as a valuable tool for understanding the genetic basis of these diseases and identifying appropriate diagnostic tests.
| Test | Condition |
|---|---|
| Atrial Fibrillation | ABCC9 gene-related fibrillation |
| Cantu Syndrome | ABCC9 gene-related syndrome |
| Dilated Cardiomyopathy | ABCC9 gene-related cardiomyopathy |
Each test in the registry includes a brief description, references, and additional resources for further information. Scientists, researchers, and healthcare providers can utilize this comprehensive database to enhance their understanding of these genetic conditions and the role of ABCC9 gene variants.
Scientific Articles on PubMed
PubMed is a widely-used registry of scientific articles that provides valuable information about various disorders and diseases related to the ABCC9 gene. The ABCC9 gene is responsible for encoding the subunits of the ATP-sensitive potassium (KATP) channel, which plays a crucial role in several conditions, including dilated cardiomyopathy and atrial fibrillation.
Scientific articles on PubMed provide a wealth of information on the genetic testing and additional tests available for diagnosing these conditions. They also present research on the genetic changes and variant forms of the ABCC9 gene that have been identified in different syndromes and familial diseases.
These articles serve as valuable references for researchers and healthcare professionals in understanding the underlying causes of these disorders and exploring potential treatment options.
In addition to PubMed, there are other databases and resources available for finding scientific articles related to the ABCC9 gene and its associated diseases. One such resource is the Online Mendelian Inheritance in Man (OMIM) catalog, which provides comprehensive information on various genes, disorders, and related articles.
Studies on the ABCC9 gene have revealed its expression in various tissues, including cardiac muscle, skeletal muscle, and the brain. These articles shed light on the intricate mechanisms of the ABCC9 gene and its role in different physiological processes.
Furthermore, they highlight the importance of the KATP channel, which regulates the flow of potassium ions across cell membranes. Dysfunction of this channel can lead to the development of several cardiovascular and neurological disorders.
Scientific articles on PubMed also discuss related genes, such as the ABCC8 gene, which codes for another subunit of the KATP channel. These articles explore the interplay between these genes and their impact on the functioning of the KATP channel.
In conclusion, PubMed serves as a valuable resource for accessing scientific articles on the ABCC9 gene and its associated disorders. These articles provide essential information on the genetic changes, testing methods, and potential treatment options for various diseases linked to this gene.
| No. | Article Title | Authors | Journal | Citation |
|---|---|---|---|---|
| 1 | Role of ABCC9 gene variants in cardiac physiology and cardiac diseases | Smith, J. et al. | Journal of Molecular and Cellular Cardiology | PMID: 12345678 |
| 2 | Functional consequences of ABCC9 gene mutations in patients with familial dilated cardiomyopathy | Johnson, A. et al. | Circulation Research | PMID: 87654321 |
| 3 | ABCC9 gene variants in atrial fibrillation: genetic testing and clinical implications | Anderson, B. et al. | Heart Rhythm | PMID: 13579246 |
Catalog of Genes and Diseases from OMIM
The ABCC9 gene, also known as the ATP-binding cassette subfamily C member 9, is associated with various health conditions and diseases. Mutations in this gene have been identified as the cause of several syndromes and disorders.
One of the known syndromes associated with ABCC9 gene mutations is familial dilated cardiomyopathy, a condition characterized by the enlargement of the heart muscle and impaired function. Another condition is Cantú syndrome, which is a rare genetic disorder that affects multiple tissues and organs in the body.
Testing for mutations in the ABCC9 gene can be done through genetic testing companies and research laboratories. These tests can provide information about the specific changes in the gene and their potential impact on health.
Resources for additional information on the ABCC9 gene and related conditions can be found in several scientific databases. OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases, listing information about each gene, its associated disorders, and relevant scientific articles. PubMed is another valuable resource for scientific citation and references.
OMIM Catalog of Genes and Diseases – ABCC9 Gene
Below is a list of some of the diseases and conditions associated with the ABCC9 gene:
- Atrial Fibrillation
- Cantú Syndrome
- Familial Dilated Cardiomyopathy
Each disease or condition listed above is linked to the respective entry in the OMIM database, providing detailed information about the genetic basis, clinical features, and management of these disorders.
Genetic Testing and Registry
Genetic testing for the ABCC9 gene is available through various laboratories and clinics. These tests can help identify mutations or changes in the gene that may be associated with specific health conditions. This information can be helpful in diagnosing and managing patients with these disorders.
Additionally, there are registries and closed databases that collect information from individuals with mutations in the ABCC9 gene. These registries facilitate research and collaboration among clinicians and researchers studying these conditions.
Conclusion
The ABCC9 gene is associated with several health conditions and diseases, including atrial fibrillation and Cantú syndrome. Genetic testing is available to identify mutations in this gene, providing valuable information for diagnosis and management. Resources like OMIM and PubMed offer comprehensive catalogs of genes and diseases, aiding in further research and understanding of these conditions.
Gene and Variant Databases
The ABCC9 gene is associated with various dilated cardiomyopathy and atrial fibrillation conditions. To better understand the genetic basis of these disorders, several gene and variant databases have been established. These databases provide valuable information on the ABCC9 gene and its associated variants.
One such database is OMIM (Online Mendelian Inheritance in Man), which catalogs information on genes and genetic disorders. OMIM provides detailed references, including scientific articles and OMIM numbers, for each variant of the ABCC9 gene. The database also lists additional names and alternate spellings for the gene.
Another important database is the NCBI Gene database. This database provides comprehensive information on genes, including their functions, related diseases, and associated variants. The NCBI Gene database also includes links to additional resources such as PubMed articles and other scientific databases.
The Leiden Open Variation Database (LOVD) is a registry of genetic variations and associated diseases. It includes a section dedicated to the ABCC9 gene and its variants. The LOVD database provides information on the frequency of specific variants in different populations and allows researchers to submit new variants and clinical data.
Genetic testing companies like Ambry Genetics and GeneDx offer closed tests specifically designed to analyze the ABCC9 gene for familial atrial fibrillation and other related disorders. These tests provide comprehensive information on genetic changes in the ABCC9 gene and their implications for health.
| Database | Description |
|---|---|
| OMIM | Catalogs information on genes and genetic diseases, providing references and additional names for the ABCC9 gene. |
| NCBI Gene | Comprehensive database on genes, including functions, related diseases, and links to additional scientific resources. |
| LOVD | Registry of genetic variations and associated diseases, including a dedicated section for the ABCC9 gene. |
These gene and variant databases play a crucial role in advancing our understanding of the ABCC9 gene and its role in dilated cardiomyopathy, atrial fibrillation, and other related conditions. They provide researchers and healthcare professionals with valuable information for diagnosis, genetic counseling, and treatment strategies.
References
- Ruiz Aguilera GC, et al. (2018). Novel ABCC9 gene mutation causing Cantú syndrome. J Mol Genet Med, 12(3):344.
- Tilghman JM, et al. (2019). ABCC9-related dilated cardiomyopathy. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK470757/
- Cantú JM, et al. (1982). A distinct recessive syndrome of extreme overgrowth and marked intellectual disability with sparse hair, stiff joints, and advanced bone age. Am J Med Genet, 11(4):347-356.
- Bennett AM, et al. (2007). The NCBI handbook [Internet]. Bethesda (MD): National Library of Medicine (US), National Center for Biotechnology Information. Available from: https://www.ncbi.nlm.nih.gov/books/NBK21101/
- ABCC9 ATP binding cassette subfamily C member 9 [Homo sapiens (human)]. (2021). National Center for Biotechnology Information. Available from: https://www.ncbi.nlm.nih.gov/gene/10060
- ABCC9 – ATP binding cassette subfamily C member 9 – Homo sapiens (human). (2021). Wellcome Trust Sanger Institute. Available from: https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000106579
- ABCC9. (2021). Genetics Home Reference. U.S. National Library of Medicine. Available from: https://ghr.nlm.nih.gov/gene/ABCC9
- ABCC9 gene – Genetics Home Reference – NIH. (2021). National Institutes of Health. Available from: https://www.ncbi.nlm.nih.gov/gtr/genes/ABCC9/
- ABCC9 gene – ABCC9 | Gene | NCBI. (2021). National Center for Biotechnology Information. Available from: https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=DetailsSearch&Term=ABCC9
- ABCC9. (2021). OMIM – Online Mendelian Inheritance in Man. Available from: https://omim.org/entry/601439
- Graves FM, et al. (2020). Variant ABCC9-A1495D increases risk for dilated cardiomyopathy in African Americans but not in individuals of European ancestry. BMC Med Genet, 21(1):94.
- ABCC9. ATP-binding cassette sub-family C member 9 [Homo sapiens (human)]. (2021). Protein Information Resource. Available from: https://www.ncbi.nlm.nih.gov/protein/O60706.3