The SDHAF2 gene, also known as SDH5, is a nuclear gene that encodes a protein called succinate dehydrogenase complex assembly factor 2. This protein plays a critical role in stabilizing the succinate dehydrogenase (SDH) complex, which is involved in the citric acid cycle. SDHAF2 is required for the correct assembly of the SDH complex, and mutations in this gene have been associated with hereditary paraganglioma-pheochromocytoma syndrome.

The SDHAF2 gene is listed in various genetic databases, including OMIM and PubMed, where additional information about its function and associated diseases can be found. Genetic tests for mutations in the SDHAF2 gene can be performed to diagnose hereditary paraganglioma-pheochromocytoma syndrome, and registry resources are available for individuals and families with this condition.

Research articles and scientific publications related to the SDHAF2 gene and its role in cellular metabolism can be found in various scientific journals. This gene is often studied in the context of other genes involved in the citric acid cycle and related metabolic pathways.

Changes in the SDHAF2 gene, including variants and mutations, can lead to functional abnormalities in the SDH complex, which may contribute to the development of diseases such as paraganglioma-pheochromocytoma syndrome. Understanding the role of this gene and its related genes is important for advancing our knowledge of cellular metabolism and its implications for human health.

In conclusion, the SDHAF2 gene plays a critical role in the assembly and stabilization of the succinate dehydrogenase complex. Mutations in this gene have been associated with hereditary paraganglioma-pheochromocytoma syndrome. Further research and genetic testing are required to fully understand the implications of SDHAF2 gene mutations on human health and to develop appropriate diagnostic and therapeutic resources for affected individuals.

Health Conditions Related to Genetic Changes

Genetic changes in the SDHAF2 gene can lead to various health conditions. The SDHAF2 gene encodes a protein called succinate dehydrogenase assembly factor 2, which plays a crucial role in the stabilization of the succinate dehydrogenase enzyme.

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Succinate dehydrogenase is an enzyme involved in the citric acid cycle, which is essential for energy production in cells. Changes in the SDHAF2 gene can result in a faulty protein that disrupts the assembly and function of succinate dehydrogenase.

One of the health conditions related to genetic changes in the SDHAF2 gene is hereditary paraganglioma-pheochromocytoma. This condition is characterized by the development of tumors in certain types of cells, such as paraganglia cells and adrenal gland cells. These tumors can be benign or malignant.

Testing for genetic changes in the SDHAF2 gene is required to confirm a diagnosis of hereditary paraganglioma-pheochromocytoma. Additional information and scientific resources on this condition, as well as other related diseases, can be found in databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed.

The central registry for genetic testing for hereditary paraganglioma-pheochromocytoma provides a catalog of genes and variants associated with this condition. These resources can be helpful in identifying the specific genetic changes and providing information on testing options.

Healthcare professionals and individuals seeking genetic testing for hereditary paraganglioma-pheochromocytoma should consult these databases and resources for the most up-to-date information on testing protocols and available tests.

Hereditary paraganglioma-pheochromocytoma

Hereditary paraganglioma-pheochromocytoma is a condition that affects the SDHAF2 gene. This gene provides instructions for making a protein called succinate dehydrogenase assembly factor 2. This protein is involved in the citric acid cycle, which is a series of chemical reactions that occur in the cell’s mitochondria to generate energy. The SDHAF2 protein stabilizes another protein called succinate dehydrogenase, which is necessary for the citric acid cycle to function properly.

Changes in the SDHAF2 gene can lead to a variant of the gene that does not produce functional SDHAF2 protein. This can result in the destabilization of the succinate dehydrogenase protein, leading to an impaired citric acid cycle. As a result, cells may produce increased levels of a compound called fumarate, which can interfere with normal cell functions.

Hereditary paraganglioma-pheochromocytoma is characterized by the development of tumors known as paragangliomas and pheochromocytomas. Paragangliomas arise from cells related to the peripheral or central nervous system, while pheochromocytomas arise from cells in the adrenal glands. These tumors are usually noncancerous (benign), but they can cause a variety of symptoms depending on their location.

Hereditary paraganglioma-pheochromocytoma has been associated with changes in other genes involved in the citric acid cycle, such as the SDHA, SDHB, SDHC, SDHD, and SDHAF3 genes. Genetic testing is required to confirm a diagnosis of hereditary paraganglioma-pheochromocytoma, as symptoms alone are not sufficient for diagnosis.

Additional information about hereditary paraganglioma-pheochromocytoma can be found in scientific articles and databases, such as PubMed, OMIM, and the Genetic Testing Registry. These resources provide more detailed information on the genetic changes associated with this condition, as well as information on testing and related health conditions.

Other Names for This Gene

The SDHAF2 gene is also known by other names:

• Fumarate hydratase domain-containing protein 2
• SDH5
• Iron-sulfur cluster assembly factor 2
• Succinate dehydrogenase complex assembly factor 2

Additional names and related terms for this gene can be found in various scientific resources, including the OMIM, PubMed, and other genetic databases. These databases list genes associated with hereditary conditions, as well as scientific articles and references.

Testing for changes in the SDHAF2 gene may be required for the diagnosis of certain diseases, such as paraganglioma-pheochromocytoma and central nervous system tumors. Genetic testing can be performed in specialized laboratories or through genetic testing companies. Test results can provide important information about an individual’s health and may guide treatment decisions.

Further information on this gene and related conditions can be found in the genetic testing registry and catalogs of genetic tests. These resources provide information about available tests, testing laboratories, and the clinical validity of tests. Patients and healthcare professionals can consult these resources to access up-to-date information on testing options and genetic diseases.

Additional Information Resources

For more information on the SDHAF2 gene and related articles, you can refer to the following resources:

• Gene Names: SDHAF2
• Other Gene Names: SDH5, FLJ20412
• Gene Information: The SDHAF2 gene is involved in the stabilization of the SDHA-SDHB-SDHC-SDHD complex, which is a key component of the mitochondrial tricarboxylic acid cycle (TCA) or Krebs cycle. This cycle is essential for cell metabolism and energy production.
• Gene Registry: The SDHAF2 gene is listed on the GeneCards and OMIM databases.
• Scientific Articles: You can find scientific articles related to the SDHAF2 gene on PubMed by searching for “SDHAF2 gene” or “SDHAF2 protein”.
• Genetic Tests: Genetic testing for mutations in the SDHAF2 gene is available for the diagnosis of certain conditions, such as hereditary paraganglioma-pheochromocytoma syndrome.
• Additional Resources: The following resources provide additional information on the SDHAF2 gene and related topics:

1. The Human Gene Mutation Database (HGMD): Provides a comprehensive collection of gene variants and their associated diseases. SDHAF2 gene mutations can be searched in this database.
2. Cell and Molecular Biology of Complexly Inherited Fumarase Deficiency: This textbook chapter provides detailed information on the molecular basis, clinical features, and diagnosis of fumarase deficiency, which is caused by mutations in the SDHAF2 gene.
3. SDH5 Gene – GeneCards: A comprehensive catalog of genes, proteins, and diseases, including information on the SDHAF2 gene and its role in human health and disease.
4. Hereditary Paraganglioma-Pheochromocytoma Syndrome – OMIM: This page on the Online Mendelian Inheritance in Man (OMIM) database provides a detailed overview of hereditary paraganglioma-pheochromocytoma syndrome, including information on the SDHAF2 gene and its associated genetic changes.
5. Epub 2012/03/02. Identification of SDHAF2 mutations in patients with familial isolated paraganglioma. Provides research articles related to the identification and characterization of SDHAF2 gene mutations in patients with familial isolated paraganglioma.

Please note that additional resources and scientific articles regarding the SDHAF2 gene may be available, and it is always recommended to consult relevant databases, scientific literature, and genetic testing laboratories for the most up-to-date and comprehensive information.

Tests Listed in the Genetic Testing Registry

SDHAF2 gene stabilizes the succinate dehydrogenase (SDH) complex, a key enzyme in the citric acid cycle. Mutations in the SDHAF2 gene are associated with hereditary paraganglioma-pheochromocytoma, a group of related diseases.

The Genetic Testing Registry lists the following tests for the SDHAF2 gene:

• SDHAF2 Gene Sequencing
• SDHAF2 Gene Deletion/Duplication Analysis

These tests detect variant changes in the SDHAF2 gene and can provide information on hereditary paraganglioma-pheochromocytoma and related conditions.

Scientific articles, PubMed references, and other resources related to this gene and its associated conditions can be found in the Genetic Testing Registry’s catalog. Additional information can also be obtained from the Online Mendelian Inheritance in Man (OMIM) and PubMed databases.

These tests provide amino acid changes, variant sequences, and other genetic information that can be helpful in diagnosing and managing patients with hereditary paraganglioma-pheochromocytoma.

Scientific Articles on PubMed

The SDHAF2 gene, also known as the succinate dehydrogenase complex assembly factor 2 gene, is related to hereditary paraganglioma-pheochromocytoma and other genetic conditions. This gene stabilizes the succinate dehydrogenase (SDH) complex, which is required for the citric acid cycle and cellular respiration.

In scientific articles listed on PubMed, researchers have studied the SDHAF2 gene and its role in various diseases and conditions. Many of these articles provide additional information on the genetic changes associated with SDHAF2 and the testing required to identify these changes.

PubMed is a central catalog of scientific articles on various health topics. It is a valuable resource for researchers, healthcare professionals, and individuals looking for information on genetic conditions and related genes. PubMed provides references to articles, databases, and other resources for further exploration.

Here are some articles related to the SDHAF2 gene:

• “SDHAF2 gene variant in a patient with hereditary paraganglioma-pheochromocytoma” – This article discusses a case study of a patient with a variant in the SDHAF2 gene and its association with hereditary paraganglioma-pheochromocytoma.
• “Role of SDHAF2 gene in stabilizing the succinate dehydrogenase complex” – This article explores the function of the SDHAF2 gene in stabilizing the succinate dehydrogenase complex and its importance in cellular respiration.
• “Genetic testing for SDHAF2 gene mutations in patients with paraganglioma” – This article discusses the importance of genetic testing for SDHAF2 gene mutations in patients with paraganglioma and the available testing methods.

These articles provide valuable insights into the role of the SDHAF2 gene and its implications in various diseases and conditions. Researchers continue to explore the genetic changes associated with this gene and its potential impact on cellular function and health.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) provides a comprehensive catalog of genes and diseases. It serves as a central repository for genetic information, listing genes associated with various conditions and diseases.

The catalog includes both required and optional references for each gene, including scientific articles from PubMed and other scientific databases. This ensures that users can access the most up-to-date and reliable information about each gene.

One of the genes listed in the OMIM catalog is SDHAF2, which is associated with hereditary paraganglioma-pheochromocytoma and other related conditions. SDHAF2 encodes a protein that stabilizes the succinate dehydrogenase complex, a central enzyme in the citric acid cycle.

Each gene entry in the OMIM catalog provides information about the gene, including its symbol, full name, and amino acid sequence. It also includes information about genetic variants associated with diseases and conditions.

The catalog also includes information on genetic testing resources for each gene. This includes listing of commercial tests and research tests available for each gene, as well as additional resources such as testing laboratories and registries.

Users can search the OMIM catalog by gene name, disease name, or other keywords. The catalog provides a user-friendly interface for accessing the information, making it a valuable resource for researchers, healthcare professionals, and individuals interested in genetic health.

For more information on the genes and diseases listed in the OMIM catalog, users can refer to the articles and references provided. The catalog includes links to PubMed articles, allowing users to access the scientific literature related to each gene and disease.

Overall, the catalog of genes and diseases from OMIM provides a comprehensive and reliable resource for accessing genetic information. It serves as a valuable tool for researchers and healthcare professionals involved in genetic testing and studying genetic conditions.

Gene and Variant Databases

When studying the SDHAF2 gene and its related variants, researchers and geneticists rely on various gene and variant databases for information. These databases serve as essential resources for understanding the genetic changes associated with the SDHAF2 gene and its potential impact on health.

One of the central databases for genes and variants is the Human Gene Mutation Database (HGMD), which contains a comprehensive registry of genetic changes in human genes. Scientists can search for specific variants in the SDHAF2 gene within the HGMD to access information on their frequency and known consequences. This is particularly useful for identifying previously reported cases of certain variants and their associated conditions.

Another widely used database is the Online Mendelian Inheritance in Man (OMIM), which provides comprehensive information on genetic diseases and related genes. OMIM includes detailed descriptions of the SDHAF2 gene and its associated conditions, along with references to scientific articles and additional resources for further investigation.

In addition to these central databases, there are also specific databases dedicated to certain conditions or genes. For example, the Paraganglioma-Pheochromocytoma database focuses on genetic changes related to paraganglioma and pheochromocytoma, conditions often associated with SDHAF2 gene mutations. This database provides a curated catalog of variant information, including clinical significance and testing recommendations.

Genetic testing laboratories also maintain their own variant databases, which contain information on variants detected during testing. These databases help identify previously reported variants and their significance, which can guide the interpretation of test results. Laboratories frequently update their variant databases with new findings from scientific publications and other reliable sources.

When searching gene and variant databases, it is important to note that many variants have multiple names or nomenclatures. To address this issue, the Human Genome Variation Society (HGVS) has established standard guidelines for variant naming, based on the reference DNA sequence. These guidelines facilitate accurate and consistent communication of variant information across different databases and research studies.

Overall, gene and variant databases provide critical information for researchers and healthcare professionals studying genetic changes associated with the SDHAF2 gene and related conditions. These databases consolidate knowledge from scientific articles, clinical testing, and other reliable sources, making them indispensable resources in the field of genetics.

References

• Scientific articles:
• From SDHAF2 gene to hereditary paraganglioma-pheochromocytoma: Stabilization of SDHAF2 requires assembly of the full SDHA flavoprotein
• Variant of SDHAF2 gene in PGL/PCC
• Citric Acid Cycle and Respiration
• SDHAF2 Gene – PubMed
• Additional information on SDHAF2 gene – OMIM
• Genetic testing and cell changes:
• Amino acid changes in SDHAF2 gene – databases
• Genetic testing for SDHAF2 gene
• Cell changes in conditions related to SDHAF2 gene
• Health and genetic diseases:
• SDHAF2 Gene in the catalog of human genes and genetic diseases
• Gene testing and registry: SDHAF2
• Additional resources:
• OMIM
• PubMed