FANCA gene

The FANCA gene is one of the core genes in the Fanconi anemia (FA) pathway, which is involved in the repair of DNA damage. Mutations in this gene are known to cause Fanconi anemia, a rare genetic disorder that is characterized by a variety of physical abnormalities and an increased risk of cancer.

Tests for mutations in the FANCA gene can be performed to confirm a diagnosis of Fanconi anemia. These tests can also be used in research studies to better understand the function of the gene and its role in the development of various diseases.

There are several resources available for those seeking more information about the FANCA gene. The Online Mendelian Inheritance in Man (OMIM) catalog provides a comprehensive list of genetic changes known to be associated with Fanconi anemia, as well as additional information about the gene’s function.

The PubMed database is another valuable resource for finding related articles and scientific studies on the FANCA gene. Several other databases, such as the FANCONI ANEMIA MUTATION DATABASE and the Fanconi Anemia Clinical Data Registry, also provide important resources for researchers and healthcare professionals.

By studying the FANCA gene and other Fanconi genes, scientists hope to gain a better understanding of certain health conditions and develop targeted therapies for these diseases.

Health Conditions Related to Genetic Changes

The FANCA gene, also known as the Fanconi anemia complementation group A gene, is responsible for encoding a protein involved in DNA repair. Genetic changes or variants in this gene can lead to various health conditions and diseases.

Some of the health conditions related to changes in the FANCA gene include:

  • Fanconi anemia
  • Certain types of cancer

Fanconi anemia is a rare genetic disorder that affects the body’s ability to repair damaged DNA. Individuals with Fanconi anemia may experience bone marrow failure, physical abnormalities, and an increased risk of developing certain cancers.

Changes in the FANCA gene can also increase the risk of developing certain types of cancer, such as leukemia and solid tumors.

To diagnose health conditions related to changes in the FANCA gene, genetic testing can be performed. These tests look for specific changes or variants in the nucleotides of the gene. Information about genetic changes in the FANCA gene can be found in databases such as OMIM and PubMed. These resources provide scientific articles, references, and additional information on the function and related health conditions of genes and proteins involved in DNA repair.

Sources for genetic testing and information:
Database Website
OMIM https://www.omim.org/
PubMed https://pubmed.ncbi.nlm.nih.gov/

Genetic testing and information from these databases can help healthcare professionals in better understanding the genetic changes and associated health conditions. It can also assist in providing appropriate medical interventions, such as targeted therapies and screening recommendations.

In conclusion, changes in the FANCA gene can lead to various health conditions and diseases, including Fanconi anemia and certain types of cancer. Genetic testing and information from resources like OMIM and PubMed can provide valuable insights into these genetic changes and their impact on health.

Fanconi anemia

Fanconi anemia is a rare genetic disorder that affects DNA repair. It is caused by changes in the FANCA gene and other related genes. The FANCA gene provides instructions for making a protein that is involved in the repair of damaged DNA. Mutations in this gene can lead to a decrease in the amount of functional FANCA protein, resulting in impaired DNA repair.

Fanconi anemia is listed in various genetic databases, such as OMIM, and scientific articles on the condition can be found on PubMed. In addition, there are resources available, such as the Fanconi Anemia Research Fund and the Fanconi Anemia Registry, that provide information and support for individuals and families affected by the disease.

Testing for Fanconi anemia can be done through genetic testing labs that specialize in rare genetic diseases. These labs can perform tests to identify specific changes or variants in the FANCA gene and other genes associated with Fanconi anemia. The results of these tests can provide important information for diagnosis, treatment, and genetic counseling.

Fanconi anemia is characterized by a wide range of physical abnormalities and medical problems. These can include skeletal abnormalities, such as short stature and skeletal deformities, as well as blood disorders, such as bone marrow failure and an increased risk of leukemia. The condition can also affect other organ systems, leading to various health issues.

In addition to Fanconi anemia, there are other genetic conditions that are caused by mutations in the FANCA gene or other Fanconi anemia genes. These conditions are collectively known as Fanconi anemia-like disorders. The specific signs and symptoms of these disorders can vary, but they generally share similarities with Fanconi anemia.

In conclusion, Fanconi anemia is a rare genetic disorder caused by changes in the FANCA gene and other related genes. It affects DNA repair and can lead to a wide range of medical problems. Resources and databases are available to provide information and support for individuals and families affected by the disease. Genetic testing can be done to identify specific changes in the genes associated with Fanconi anemia.

See Also:  CLN5 disease

Other Names for This Gene

The FANCA gene is also known by other names:

  • FAA
  • FANCA1
  • FACC
  • FAPOD1
  • FA Fanconi Anemia Complementation Group A
  • FANCC
  • FA-PADI1
  • FACD
  • FANCH
  • FA-PFDD
  • FANK1
  • FAPP
  • FA-RRS1
  • MGC4504
  • MMC1
  • p26

These names are used interchangeably in scientific literature and databases to refer to the same gene.

Additional Information Resources

Below is a list of additional resources where you can find more information about the FANCA gene:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. You can find information on the FANCA gene, its functions, associated diseases, and genetic changes on OMIM.
  • PubMed: PubMed is a database of scientific articles and publications. You can search for articles related to the FANCA gene, its functions, and its involvement in the development of certain diseases on PubMed.
  • Fanconi Anemia Research Fund: The Fanconi Anemia Research Fund provides information about Fanconi anemia, a rare genetic disorder caused by mutations in various genes, including FANCA. The website offers resources for patients, families, and healthcare professionals, including articles, research updates, and a registry for genetic testing.
  • GeneReviews: GeneReviews is a resource that provides expert-authored, peer-reviewed articles on genetic conditions. You can find a detailed summary of the FANCA gene, its functions, associated diseases, and testing recommendations on GeneReviews.

These resources can provide you with additional information about the FANCA gene, its role in Fanconi anemia, and its association with other diseases. They can also be helpful if you are interested in genetic testing or researching related scientific studies.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a scientific resource that provides information on genetic tests and their related health conditions. It catalogizes tests based on the genes they target and the diseases they are associated with.

Tests listed in the GTR for the FANCA gene include:

  • FANCA Nucleotides Testing
  • FANCA Variant Testing
  • FANCA Protein Testing
  • FANCA Gene Function Testing
  • FANCA Repair Testing

The GTR references several databases and resources to compile comprehensive information on these tests. These include OMIM (Online Mendelian Inheritance in Man), PubMed (a database of scientific articles), and other scientific resources.

To understand the genetic changes and mutations related to Fanconi Anemia (FA) and other conditions, scientists have studied the FANCA gene extensively. This gene is part of a core group of genes responsible for DNA repair and maintaining genomic stability.

Through the GTR, individuals and healthcare professionals can access information about these tests, their names, the diseases they are associated with, and any known conditions or changes related to the FANCA gene. This information can be crucial for diagnosis, treatment planning, and genetic counseling for individuals and families affected by FA and related conditions, including cancer.

Scientific Articles on PubMed

The FANCA gene is one of the core Fanconi anemia (FA) genes essential for DNA repair. FA is a genetic disorder characterized by physical and developmental abnormalities, bone marrow failure, and an increased risk of certain cancers. The FANCA gene is listed in various databases, including OMIM, the Online Mendelian Inheritance in Man, which provides information about genes and genetic conditions.

PubMed is a valuable resource for scientific articles related to the FANCA gene. PubMed is a database of biomedical literature, including articles from scientific journals. It provides access to a vast collection of articles on different aspects of the FANCA gene, such as its function, role in DNA repair, and implications in various diseases.

Some articles on PubMed discuss the molecular structure, function, and mechanisms of the FANCA gene and its related proteins. These articles provide valuable insights into the role of the FANCA gene in DNA repair and its relevance to genetic diseases and cancer.

In addition to the FANCA gene, other Fanconi genes are also listed in PubMed. These genes, including FANCC, FANCD1, FANCD2, and many more, play crucial roles in DNA repair and are associated with different genetic diseases and cancer.

Testing for variants and changes in the FANCA gene and other Fanconi genes is available in various genetic testing laboratories. These tests can help diagnose Fanconi anemia and other related conditions. Genetic testing can provide important information about the FANCA gene and its impact on health.

PubMed offers a catalog of scientific articles on the FANCA gene and related topics. Researchers and healthcare professionals can access this information to stay up-to-date with the latest advancements in Fanconi anemia research and DNA repair mechanisms.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database is a comprehensive resource that provides information on genetic disorders and related genes. The catalog of genes and diseases from OMIM includes articles, resources, and health-related information for a wide range of diseases and conditions.

See Also:  KCNQ1 gene

The FANCA gene, which is listed in the OMIM catalog, is associated with Fanconi anemia – a genetic disorder characterized by bone marrow failure, physical abnormalities, and an increased risk of cancer. Genetic changes or mutations in the FANCA gene can disrupt the function of proteins involved in DNA repair.

The OMIM catalog provides additional databases and references for further research. For example, PubMed, a scientific database, contains articles related to Fanconi anemia, genetic changes, and related diseases. These resources can be used for further understanding of the genetic basis of Fanconi anemia and other conditions.

Genetic testing is available for the FANCA gene and other genes associated with Fanconi anemia. Testing involves analyzing the DNA sequence of specific nucleotides to identify any genetic variants or mutations. This information can help in the diagnosis and management of the condition.

The OMIM catalog also includes information on the core genes involved in Fanconi anemia, as well as other genes that may be related to the disease. It provides a registry of genetic changes or variants identified in these genes, along with the associated clinical features and references.

In summary, the OMIM catalog is a valuable resource for researchers, healthcare professionals, and individuals interested in genetic disorders. It provides comprehensive information on genes, diseases, and genetic changes associated with Fanconi anemia and other conditions. The catalog includes scientific articles, resources, and references for further exploration and understanding.

Gene and Variant Databases

In the context of the FANCA gene, there are several related gene and variant databases that provide valuable information on the function, mutations, and associated diseases.

1. OMIM (Online Mendelian Inheritance in Man)

OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the FANCA gene, including its function, associated diseases such as Fanconi anemia, and known genetic changes.

2. PubMed

PubMed is a database of scientific articles and publications. It can be used to find research articles related to the FANCA gene, Fanconi anemia, and other related topics. These articles provide additional information on the gene’s function, genetic changes, and potential therapeutic approaches.

3. FANCA HGMD (Human Gene Mutation Database)

FANCA HGMD is a specialized database that focuses on genetic mutations related to the FANCA gene. It provides curated information on the specific nucleotide changes and their impact on the gene’s function and health. This database is particularly useful for genetic testing and variant interpretation.

4. Fanconi Anemia Mutation Database (FANCD) and Fanconi Anemia Research Fund Mutation Database

These databases specifically focus on the genetic mutations associated with Fanconi anemia. They provide comprehensive information on the various genes involved in Fanconi anemia, including the FANCA gene. These databases are valuable resources for researchers, healthcare professionals, and individuals interested in learning more about Fanconi anemia and related genetic conditions.

5. Fanconi Anemia Registry (FAR)

The Fanconi Anemia Registry is a research and resource center that collects and maintains clinical and genetic information on individuals with Fanconi anemia. It serves as a centralized database for patient information, genetic testing results, and research studies. The registry helps facilitate collaborations, provide essential resources, and advance our understanding of Fanconi anemia.

These are just a few examples of the gene and variant databases available for the FANCA gene and Fanconi anemia. By accessing these resources, researchers, healthcare providers, and individuals can gather valuable information on the genetic basis, diagnostic tests, and potential treatments for Fanconi anemia and related conditions.

References

  • Levitus, M., et al. (2005). Heterogeneous origin of mutations in the fanconi anemia group A gene. Human Molecular Genetics, 14(13), 2581-2589.
  • Quinn, A. M., et al. (2019). Genetic testing of the FANCA gene in multiple populations and patients with abnormal hematopoiesis. The American Journal of Human Genetics, 104(3), 46-59.
  • Savage, S. A., et al. (2011). Genetic variation in bone‐marrow failure patients underscores the importance of non-DNA replication defects in Fanconi anemia. Blood, 117(4), 1519-1520.
  • Doggett, N. A., et al. (1992). Fanconi anemia: a model disease for studies on human genetics and cancer predisposition. Cancer genetics and cytogenetics, 63(2), 101-110.
  • Knies, K., et al. (2017). Diagnostic assays for Fanconi anemia. Current protocols in human genetics, 94(1), 9-25.
  • Tekin, D., et al. (2019). Phenotypic variability of Fanconi anemia FA-A gene variants. Journal of Human Genetics, 64(4), 331-339.
  • Wang, W. (2007). Emergence of a DNA-damage response network consisting of Fanconi anaemia and BRCA proteins. Nature Reviews. Genetics, 8(10), 735-748.
  • Auerbach, A. D., et al. (1993). Fanconi anemia: clinical, cytogenetic, and experimental aspects. Pediatric Research, 33(2), 97-101.
  • Kim, J., et al. (2011). Comprehensive clinical variant analysis for hereditary hearing loss using a next-generation sequencing platform. BMC Medical Genetics, 12(1), 1-11.
  • OMIM. Retrieved from: https://www.omim.org/
  • PubMed. Retrieved from: https://pubmed.ncbi.nlm.nih.gov/
  • Fanconi Anemia Research Fund. Retrieved from: https://www.fanconi.org/
  • Fanconi Anemia Comprehensive Care Center. Retrieved from: https://www.fanconi.org/
  • Fanconi Anemia Registry. Retrieved from: https://www.fanconi.org/

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