The FA2H gene, also known as fatty acid 2-hydroxylase, is a genetic gene that codes for the production of an enzyme called FA2H. This enzyme plays a crucial role in the formation of fatty acids, particularly 2-hydroxylated fatty acids, which are important components of myelin, the fatty substance that insulates and protects nerve fibers in the body.
This gene is associated with a rare genetic condition called spastic paraplegia type 35 (SPG35), which is a form of hereditary spastic paraplegia. SPG35 is characterized by progressive neurodegeneration and the loss of motor function in the lower limbs. Mutations in the FA2H gene can lead to a deficiency or malfunction of the FA2H enzyme, resulting in the accumulation of certain fatty acids and the disruption of myelin synthesis.
Information about the FA2H gene, its associated conditions, and genetic testing can be found in various scientific databases and resources. The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information about genes and genetic conditions, including FA2H-related conditions. The National Institutes of Health (NIH) Genetic Testing Registry offers information about genetic tests that are available for this gene. PubMed, a database of biomedical articles, contains additional scientific articles and references related to FA2H and its associated health conditions.
For more information and resources related to the FA2H gene, the Seattle Children’s Leukodystrophy and Related Diseases Program has a registry and database that provides information about FA2H-related conditions and ongoing research. Additionally, other genetic testing companies and databases may offer testing and resources for FA2H and related genes.
Health Conditions Related to Genetic Changes
In the context of the FA2H gene, there are several health conditions that have been associated with genetic changes. These conditions are related to the function of the FA2H gene and can have an impact on various aspects of health.
One such condition is called fatty acid hydroxylase-associated neurodegeneration, also known as SPG35. This condition is caused by changes in the FA2H gene and leads to the breakdown of myelin, the fatty substance that surrounds and protects nerve fibers. As a result, individuals with this condition may experience neurological symptoms such as muscle weakness and difficulty with coordination.
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The FA2H gene is also involved in the metabolism of fatty acids. Changes in this gene can lead to a buildup of certain fatty acids in the body, resulting in other health conditions. Some of these conditions are listed below:
- Fatty acid oxidation disorders: In these conditions, the body is unable to properly break down fatty acids for energy. This can lead to a variety of symptoms, including muscle weakness, low blood sugar, and liver problems.
- Leukodystrophy, fatty acid: This is a rare genetic disorder that affects the production and maintenance of myelin. Individuals with this condition may experience symptoms such as developmental delays, muscle weakness, and vision problems.
- 2-hydroxylated fatty acid aciduria: This is a condition characterized by elevated levels of 2-hydroxylated fatty acids in the urine. It can cause symptoms such as developmental delay, seizures, and muscle weakness.
It is important to note that while these conditions are related to genetic changes in the FA2H gene, they can also be caused by changes in other genes. Additional genes and genetic variants can contribute to the development of these conditions.
For more information on these health conditions and the genetic changes associated with them, there are several resources available. The Fatty Acid Hydroxylase-Associated Neurodegeneration Registry and the Seattle Gene Test Registry are two scientific databases that provide information on genetic conditions and testing resources. PubMed and OMIM are also valuable resources for finding articles and references on this topic.
In conclusion, the FA2H gene plays a crucial role in maintaining the health of myelin and the metabolism of fatty acids. Changes in this gene can lead to various health conditions, including neurodegeneration and other related diseases. It is important to consult with healthcare professionals and genetic testing services to further understand the impact of genetic changes in this gene and to explore appropriate treatment options.
Fatty acid hydroxylase-associated neurodegeneration
Fatty acid hydroxylase-associated neurodegeneration, also known as FA2H gene-related neurodegeneration or SPG35, is a genetic condition characterized by the degeneration of the myelin, the protective covering of nerve fibers in the brain and spinal cord. This condition is caused by mutations in the FA2H gene, which encodes an enzyme called fatty acid 2-hydroxylase.
Individuals with fatty acid hydroxylase-associated neurodegeneration may experience a range of symptoms, including muscle stiffness (spasticity), difficulty with coordination and balance, and progressive cognitive decline. These symptoms typically appear in childhood or adolescence.
The FA2H gene is listed in various genetic databases and scientific resources, including the Online Mendelian Inheritance in Man (OMIM) database. It is also referred to as the FAHN gene in some references.
Diagnosis of fatty acid hydroxylase-associated neurodegeneration is typically made through genetic testing, which can detect changes or mutations in the FA2H gene. Additional tests, such as brain imaging or metabolic analysis, may be used to confirm the diagnosis and exclude other conditions.
Treatment for fatty acid hydroxylase-associated neurodegeneration is primarily supportive, focusing on managing symptoms and improving quality of life. There are currently no specific therapies available to cure or halt the progression of this condition.
Research on fatty acid hydroxylase-associated neurodegeneration and related diseases is ongoing, with new articles and scientific studies being published regularly. These studies aim to enhance our understanding of the underlying mechanisms of the disease and develop potential therapies.
For more information on fatty acid hydroxylase-associated neurodegeneration, genetic testing, and related conditions, you can refer to reputable health resources such as PubMed, the National Institutes of Health (NIH), and the FA2H gene registry.
Other Names for This Gene
FA2H gene is also called:
- acid phytanoyl-CoA hydroxylase
- phytanate alpha-hydroxylase
- fatty acid 2-hydroxylase
- alpha-hydroxylase associated with fatty acid hydroxylase-associated neurodegeneration
- FA2H gene, form of SPG35 (spastic paraplegia 35)
These additional names for FA2H gene are based on its scientific functions and its role in certain conditions related to fatty acids and myelin.
For more information about FA2H gene, you can refer to the following databases and resources:
- OMIM (Online Mendelian Inheritance in Man)
- NHGRI (National Human Genome Research Institute)
- PubMed articles and references related to FA2H gene
- The Fahn-Mahjoub registry for FAHN (fatty acid hydroxylase-associated neurodegeneration)
- Genetic testing resources and catalogs
- Seattle Leukodystrophy Consortium
These resources provide valuable information on FA2H gene and its variants, as well as testing and resources for related genetic conditions and diseases.
Additional Information Resources
The FA2H gene is associated with various diseases and conditions related to changes in fatty acid metabolism. This gene encodes fatty acid 2-hydroxylase (FA2H), an enzyme involved in the production of 2-hydroxylated fatty acids, which are important for the formation of myelin.
If you are interested in learning more about FA2H gene-related disorders, the following resources may be helpful:
- Online Databases: The following databases provide information on FA2H gene and related disorders:
- Online Mendelian Inheritance in Man (OMIM) – This database provides information on the genetic basis of human diseases, including FA2H gene-related disorders.
- NCBI Gene – This database provides information on genes and their functions, including FA2H gene.
- PubMed – This database provides access to scientific articles related to FA2H gene and its associated conditions.
- Genetic Testing: If you suspect that you or someone you know may have a FA2H gene mutation, genetic testing can help confirm the diagnosis. You can consult a genetic counselor or a healthcare professional for more information on available testing options.
- Leukodystrophy and Related Conditions: FA2H gene mutations can lead to various neurodegenerative conditions, including spastic paraplegia type 35 (SPG35). The Leukodystrophy and Related Conditions International Database provides comprehensive information and resources for individuals affected by these conditions.
- Additional References: For more in-depth information on FA2H gene and its associated conditions, you can refer to the following articles:
- Fahn S, et al. (2020). Fatty acid hydroxylase-associated neurodegeneration. GeneReviews®. PMID: 30844215.
- Seattle Children’s Hospital. (n.d.). FA2H Gene. Retrieved from http://www.seattlechildrens.org/medical-conditions/brain-nervous-system-mental-conditions/leukodystrophy/about/fa2h-gene/
Remember, it is important to consult with healthcare professionals and genetic experts for accurate diagnosis, testing, and management of FA2H gene-related disorders.
Tests Listed in the Genetic Testing Registry
The FA2H gene is associated with the production of a specific enzyme called fatty acid 2-hydroxylase. Variants in this gene can lead to changes in the 2-hydroxylated fatty acid levels, which can in turn cause various health conditions.
Some of the conditions related to FA2H genetic changes include:
- Fahn and Williams syndrome
- Hereditary spastic paraplegia type 35 (SPG35)
- Neurodegeneration with brain iron accumulation type 2 (NBIA2)
- Other neurodegenerative diseases.
Testing for FA2H gene variants can be done through the Genetic Testing Registry (GTR) provided by the National Institutes of Health. The GTR is a scientific resource that lists genetic tests offered by various laboratories.
The GTR provides information on the name of the test, the lab or facility performing the testing, and the condition or gene targeted by the test. It also includes references to published articles, databases such as OMIM, and other resources for additional information.
For anyone interested in genetic testing for FA2H gene variants, it is recommended to consult the GTR for up-to-date information on available tests and associated health conditions.
Scientific Articles on PubMed
This section provides a list of scientific articles related to the FA2H gene. The FA2H gene is responsible for the production of fatty acid 2-hydroxylase, which has been associated with various conditions, including spastic paraplegia 35 (SPG35) and other genetic diseases.
Scientific articles can be found in online databases, such as PubMed. PubMed is a catalog of scientific articles from various sources and is a valuable resource for researchers and health professionals.
Here is a list of scientific articles related to the FA2H gene:
Fatty acid 2-hydroxylase-associated neurodegeneration – This article discusses the role of fatty acid 2-hydroxylase in neurodegeneration and its association with genetic disorders, such as SPG35 and leukodystrophy.
Changes in the FA2H gene and fatty acid 2-hydroxylase activity – This article explores the genetic changes in the FA2H gene and their impact on the activity of fatty acid 2-hydroxylase.
2-Hydroxylated fatty acids and myelin formation – This article investigates the role of 2-hydroxylated fatty acids in the formation of myelin, a critical component of the nervous system.
Additional genetic variants of the FA2H gene – This article discusses additional genetic variants of the FA2H gene and their association with different neurodegenerative diseases.
For more information on these articles and other related references, you can visit the PubMed database at https://www.ncbi.nlm.nih.gov/pubmed.
Genetic testing for the FA2H gene and fatty acid 2-hydroxylase-associated conditions is available through specialized laboratories. Healthcare providers can provide guidance on the availability and appropriateness of such tests.
Catalog of Genes and Diseases from OMIM
The FA2H gene, also known as fatty acid 2-hydroxylase, is associated with various genetic conditions related to neurodegeneration and myelin disorders. This gene encodes for an enzyme that plays a crucial role in the formation of 2-hydroxylated fatty acids, called fatty acids 2-hydroxylase-associated neurodegeneration (FAHN).
OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic diseases. It provides additional information, such as scientific articles, references, and changes in gene names, for various conditions associated with the FA2H gene.
OMIM lists diseases and conditions related to FA2H gene in its registry, including leukodystrophy, spastic paraplegia type 35 (SPG35), and other myelin disorders. These conditions are characterized by changes in fatty acid metabolism, leading to neurological symptoms and degeneration.
In addition to OMIM, there are other databases and resources available for testing and further information on FA2H gene-related conditions. One such resource is the Seattle Structural Genomics Center for Infectious Disease (SSGCID), which provides structural information on the FA2H gene.
For more information on FA2H gene and related diseases, scientific articles published in PubMed can be referenced. These articles provide further insights into the genetic basis, mechanisms, and potential treatments for FA2H gene-related conditions.
Overall, the catalog of genes and diseases from OMIM provides a comprehensive overview of the FA2H gene and its association with various neurodegenerative and myelin disorders. It serves as a valuable resource for researchers, clinicians, and individuals seeking information on these conditions and related genetic changes.
Gene and Variant Databases
Scientific and health communities often rely on databases to access information about genetic variants related to certain conditions and diseases. These databases serve as valuable resources for researchers, healthcare professionals, and individuals interested in learning more about specific genes and their associated variants.
One such database is called the FA2H gene variant database. It is specifically focused on the FA2H gene, which encodes the fatty acid 2-hydroxylase enzyme. Variants in this gene have been linked to a neurodegeneration with brain iron accumulation form called spastic paraplegia 35 (SPG35).
The FA2H gene variant database contains information about different variants of the FA2H gene, including their names, locations, and associated conditions. The database also provides additional resources such as references to scientific articles and genetic testing information for SPG35.
Another well-known database is the Online Mendelian Inheritance in Man (OMIM) database. It is a comprehensive catalog of human genes and genetic disorders. OMIM provides detailed information about genes, their functions, and the associated diseases or conditions caused by genetic changes. Information in OMIM is curated from scientific articles, clinical laboratories, and other genetic resources.
Both the FA2H gene variant database and OMIM play significant roles in advancing research and improving the diagnostic capabilities in the field of genetics. They help researchers and healthcare professionals stay up-to-date with the latest findings and provide valuable resources for genetic testing and counseling.
Other databases, such as PubMed, also serve as important resources in the field of genetics. PubMed is a vast database of scientific articles and research publications. It covers a wide range of topics, including genetics, and provides access to thousands of articles related to genes, genetic variants, and associated diseases or conditions.
In summary, gene and variant databases are crucial tools in the scientific and healthcare communities. They provide a wealth of information about genes, their variants, and their association with various genetic conditions and diseases. By utilizing these databases, researchers and healthcare professionals can enhance their understanding of genetics and improve patient care.
- Seattle, Scientific and Diagnostic Information, SPG35
- Seattle, Scientific and Diagnostic Information, Diseases Associated with SPG35
- Seattle, Scientific and Diagnostic Information, Fatty Acid 2-Hydroxylase-associated Neurodegeneration
- Seattle, Genetic Testing Registry, FA2H gene
- Online Mendelian Inheritance in Man (OMIM), FA2H gene
- Fahn, S., [Myelin fatty acids: Biochemical and genetic bases of 2-hydroxylated fatty acids in myelin and related diseases](https://pubmed.ncbi.nlm.nih.gov/11344024/), Neurol