The ELOVL4 gene is a gene that has been extensively studied in the field of genetics. Numerous scientific articles and research studies have been published on this gene, and many of them can be found on PubMed, a well-known database for scientific publications.

Research on the ELOVL4 gene has found that mutations in this gene are associated with various diseases, including Stargardt disease, macular dystrophy, and age-related macular degeneration. These genetic changes can lead to the loss of vision and other related conditions. Tests and health checks for these diseases often involve testing for genetic variants in the ELOVL4 gene.

The ELOVL4 gene is involved in the production of a protein that plays a role in the phospholipid synthesis, especially within the endoplasmic reticulum. Mutations in this gene can disrupt the normal functioning of the protein, leading to cellular changes and the development of various retinal degenerative diseases.

The Online Mendelian Inheritance in Man (OMIM) database provides additional information on the ELOVL4 gene and its associated conditions. It lists references, genetic changes, and resources for testing and registry related to this gene. Researchers and healthcare professionals can refer to OMIM for updated information on the ELOVL4 gene and its implications in different diseases.

Health Conditions Related to Genetic Changes

Genetic changes in the ELOVL4 gene have been found to be associated with various health conditions. The ELOVL4 gene provides instructions for making an enzyme that is involved in the production of very long chain fatty acids (VLCFAs). These fatty acids are essential for the normal function of many tissues and organs in the body. Mutations in the ELOVL4 gene can lead to a variety of diseases and conditions.

Stargardt macular dystrophy: Stargardt macular dystrophy is a genetic disorder characterized by progressive vision loss. Changes in the ELOVL4 gene have been identified as one of the causes of this condition. Stargardt macular dystrophy affects the macula, which is the small area in the center of the retina that is responsible for sharp, central vision.

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Other macular dystrophy: Genetic changes in the ELOVL4 gene have also been associated with other forms of macular dystrophy. Macular dystrophy is a group of genetic eye disorders that cause progressive vision loss and can lead to severe visual impairment.

Retinitis pigmentosa: Retinitis pigmentosa is another genetic disorder that can be caused by changes in the ELOVL4 gene. This condition causes the breakdown and loss of cells in the retina, leading to gradual vision loss and, in some cases, blindness.

Additional health conditions: Other health conditions related to genetic changes in the ELOVL4 gene include neurodevelopmental disorders and neurodegenerative diseases. These conditions can affect different body systems and functions, including the nervous system, muscles, and cognitive abilities.

To determine if someone has a genetic change in the ELOVL4 gene, genetic testing can be performed. This involves analyzing a person’s DNA to look for specific variations or mutations in the gene. These tests can be done using various genetic testing methods, such as DNA sequencing or genetic panel testing.

Resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed provide scientific information on the ELOVL4 gene, including a catalog of genetic changes and associated health conditions. The OMIM database lists genetic variants and their clinical significance, while PubMed provides access to research articles and references related to the ELOVL4 gene and related diseases.

Genetic testing and counseling: If you suspect that you or a family member may have a genetic change in the ELOVL4 gene or if you have been diagnosed with a related health condition, it is important to seek genetic testing and counseling. Genetic testing can provide important information for diagnosis, treatment, and management of these conditions.

References:

1. OMIM database: ELOVL4 gene. Retrieved from https://www.omim.org/search/?index=entry&search=ELOVL4
2. PubMed database. Retrieved from https://pubmed.ncbi.nlm.nih.gov

Stargardt macular degeneration

Stargardt macular degeneration is a genetic dystrophy that affects the retina, causing progressive vision loss. It is one of the most common inherited macular diseases and typically affects individuals by the age of 20.

The condition is caused by mutations in the ELOVL4 gene, which provide instructions for making an enzyme that is involved in the production of very long chain fatty acids. These fatty acids are important for the normal function of the photoreceptor cells in the retina.

Stargardt macular degeneration is part of a group of conditions known as retinal dystrophies. Other genetic diseases related to the ELOVL4 gene include age-related macular degeneration and other forms of macular degeneration.

Scientific articles can be found on PubMed, where further research and testing on the ELOVL4 gene and its variants can be accessed. Additional information on Stargardt macular degeneration can be found on OMIM (Online Mendelian Inheritance in Man), a catalog of human genes and genetic disorders.

The Stargardt Disease Registry provides resources and testing information for individuals and families affected by Stargardt macular degeneration. Genetic testing can help identify specific changes in the ELOVL4 gene and provide information on the likelihood of developing the condition.

Health databases and resources can be used to access information on genes related to Stargardt macular degeneration. These resources can help individuals understand the genetic basis of the condition and explore treatment options.

Age-related macular degeneration

Age-related macular degeneration (AMD) is a genetic disorder that leads to the progressive loss of central vision due to macular degeneration. The macula is the part of the retina responsible for sharp central vision, allowing us to see fine details clearly. AMD usually occurs in individuals over the age of 50 and is the leading cause of severe vision loss in older adults.

AMD is a complex disease with both genetic and environmental factors playing a role in its development. One of the genes found to be associated with AMD is the ELOVL4 gene. Changes in this gene can lead to dysfunction in the endoplasmic reticulum, a cell structure responsible for protein processing and lipid metabolism.

To diagnose AMD, various tests can be conducted, including genetic testing. Genetic tests can identify specific variants or changes in genes associated with AMD, such as ELOVL4. Testing for these genetic variants can provide valuable information on an individual’s risk for developing AMD and help guide their healthcare decisions.

Resources for information on AMD and genetic testing can be found in various databases and registries. The Online Mendelian Inheritance in Man (OMIM) catalog provides scientific references, articles, and other resources on inherited diseases, including AMD. PubMed is another valuable resource for scientific articles on AMD and related conditions.

In addition to genetic testing, there are other tests available for the diagnosis and monitoring of AMD. These include retinal imaging, visual acuity tests, and optical coherence tomography (OCT), among others. These tests can help assess the extent and progression of macular degeneration.

Stargardt disease, also known as Stargardt macular dystrophy, is another genetic condition that leads to macular degeneration. While it is caused by mutations in different genes, it shares some similarities with AMD, making genetic testing important for accurate diagnosis and management.

By understanding the genetic factors involved in AMD and related conditions, healthcare professionals can make more informed decisions regarding prevention, diagnosis, and treatment. Genetic testing and information on gene variants associated with AMD can help identify individuals at risk and guide personalized healthcare strategies.

Other Names for This Gene

• ELOVL fatty acid elongase 4
• Stargardt 3
• STGD3
• Very long chain fatty acids protein 4
• Retinal dystrophy, early-onset severe macular, with or without adult-onset vitelliform macular dystrophy
• RD2
• RE1-retinochoroiditis

The ELOVL4 gene is also known by several other names. These names include Stargardt 3 (STGD3), as mutations in the ELOVL4 gene are associated with Stargardt disease, a genetic condition that leads to vision loss. The gene is also referred to as RD2, which stands for retinal dystrophy 2, and RE1-retinochoroiditis, which refers to a specific type of retinal degeneration.

Other names for ELOVL4 gene include ELOVL fatty acid elongase 4, highlighting its role in the elongation of fatty acids. It is also known as Very long chain fatty acids protein 4, emphasizing its involvement in the metabolism of long-chain fatty acids.

These various names reflect the multiple functions and associations of the ELOVL4 gene with different diseases and conditions. The gene is of particular interest in the scientific community due to its involvement in age-related macular degeneration and Stargardt disease, both of which are genetic disorders affecting the retina.

For more information about the ELOVL4 gene and its role in related conditions, additional testing, and genetic health, refer to the following resources:

1. OMIM (Online Mendelian Inheritance in Man): Provides a catalog of genetic disorders and related genes.
2. PubMed: Offers a vast collection of scientific references and research articles.
3. Genetic Testing Registry: Offers information on available genetic tests for the ELOVL4 gene and related conditions.
4. Other genetic databases and resources: Can provide variant databases, genetic changes associated with the gene, and additional scientific references.

These resources can provide valuable information about the ELOVL4 gene and its role in various diseases and conditions, helping researchers and healthcare professionals better understand and address the associated health issues.

Additional Information Resources

Here is a list of additional resources related to the ELOVL4 gene:

1. Genetic Testing: The following catalogs offer genetic tests for ELOVL4 gene variants and related conditions:

• OMIM Database – Provides information on genetic tests, diseases, and conditions associated with ELOVL4 gene changes.
• PubMed – Offers scientific articles and references on genetic testing and ELOVL4 gene variants.

• Registry of Genes and Genetic Testing – A comprehensive platform that provides a registry of genetic tests and genes, including the ELOVL4 gene.
• Genetic and Rare Diseases Information Center – Offers a database on rare diseases and genetic conditions related to ELOVL4 gene.

• Stargardt Macular Degeneration – A study on the role of ELOVL4 gene in Stargardt Macular Degeneration.
• Dystrophy and Retinitis Pigmentosa – An article discussing the connection between ELOVL4 gene and Dystrophy and Retinitis Pigmentosa.
• Age-Related Macular Degeneration – A study exploring the association of ELOVL4 gene with Age-Related Macular Degeneration.

These resources provide valuable information on genetic testing, diseases, and conditions related to the ELOVL4 gene. They can be used to make informed decisions about health and genetic testing.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a database that provides information about genetic tests for a variety of conditions. In relation to the ELOVL4 gene, the GTR includes the following tests:

• Stargardt disease/age-related macular degeneration, ELOVL4 variant: This test identifies changes in the ELOVL4 gene that are associated with Stargardt disease and age-related macular degeneration.
• Health-related variant in ELOVL4: This test looks for genetic variants in the ELOVL4 gene that may be associated with various health conditions.
• ELOVL4 gene testing for reticulum dystrophy: This test analyzes the ELOVL4 gene for specific changes that may contribute to reticulum dystrophy.
• Genetic testing for other conditions related to the ELOVL4 gene: This test examines the ELOVL4 gene for variants and changes that may be related to other genetic conditions.

Additional information and resources for genetic testing of the ELOVL4 gene can be found in scientific articles, databases, and references such as PubMed, OMIM, and other genetic testing catalogs. These resources provide valuable information on the testing procedures, names of the tests, and related genes and diseases.

These resources can help individuals and healthcare professionals access the most up-to-date information on genetic testing for conditions related to the ELOVL4 gene, and provide additional references for further exploration.

Scientific Articles on PubMed

PubMed is a widely used database that provides access to a large collection of scientific articles on various health and genetic conditions. This database is a valuable resource for researchers and healthcare professionals looking for information on the ELOVL4 gene and its role in diseases such as Stargardt disease, age-related macular degeneration, and other forms of retinal degeneration.

PubMed catalog contains articles that have been published in scientific journals and cover a wide range of topics related to genetics, testing, and changes in the ELOVL4 gene. These articles provide additional information on the genetic variant of the ELOVL4 gene, its role in the development of macular degeneration and retinal diseases, and the impact of these changes on reticular endoplasmic function.

The articles listed in PubMed come from various scientific journals, and they provide valuable insights into the mechanisms of genetic changes in the ELOVL4 gene and their association with different diseases and conditions. These articles can serve as references for further research and clinical testing.

In addition to scientific articles, PubMed also provides access to other databases and resources that contain information on genetic testing, genetic variant catalogs, and disease registries. Researchers and healthcare professionals can use these resources to find more information on the ELOVL4 gene, including testing methods, genetic changes associated with specific diseases, and resources for patients and families.

Overall, PubMed is a valuable tool for anyone interested in learning more about the ELOVL4 gene and its role in various diseases and conditions. It provides a wealth of scientific articles, genetic variant catalogs, and other resources that can assist in understanding the genetic basis of macular degeneration and retinal diseases.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a valuable resource for genetic testing and research. OMIM, or Online Mendelian Inheritance in Man, is a comprehensive database that provides information on genetic conditions and the genes associated with them. It allows scientists, healthcare professionals, and individuals to access detailed information on various genetic diseases.

OMIM contains a vast catalog of genes and their associated diseases. It lists genes related to a range of conditions, including age-related macular degeneration, Stargardt dystrophy, and other genetic retinal degenerations. The database provides details on genetic changes, loss of function, and endoplasmic reticulum changes associated with these diseases.

For each gene, OMIM provides additional information such as scientific names, references to articles and databases, and resources for genetic testing. The catalog also includes a registry of tests available for each gene, making it easier for individuals to find relevant testing options.

The OMIM catalog is organized in a user-friendly manner. It categorizes genes and diseases into different sections, allowing users to navigate through the information easily. The database also includes search functionality, enabling users to quickly find specific genes or diseases of interest.

The information provided by OMIM is constantly updated with new scientific discoveries and research findings. This ensures that users have access to the most up-to-date and accurate information on genetic diseases and associated genes.

In conclusion, the Catalog of Genes and Diseases from OMIM is a valuable resource for anyone interested in genetic testing, research, and health. It offers a comprehensive collection of information on genetic conditions, genes, and associated references. OMIM simplifies the process of finding relevant information and provides a reliable source for understanding and studying genetic diseases.

Gene and Variant Databases

The ELOVL4 gene is associated with age-related macular degeneration and Stargardt’s disease, among other conditions. To study the genetic changes in this gene, several variant databases provide valuable resources and information for scientists and health professionals.

One such database is the Variant Catalog, which lists all the known variants of the ELOVL4 gene. This database includes information on the name of each variant, the type of change it causes, and references to scientific articles and publications that have studied these variants.

The PubMed database is another valuable resource for researchers studying the ELOVL4 gene. This database contains a vast collection of scientific articles and references related to this gene, as well as other genes and conditions. Researchers can search for specific variants of the ELOVL4 gene and find relevant articles and studies.

The Genetic Testing Registry is a comprehensive database that provides information on genetic tests, including those for the ELOVL4 gene. Researchers and health professionals can find details about the types of tests available, their accuracy, and the conditions they detect. This database also includes information on laboratories and clinics that offer genetic testing for the ELOVL4 gene.

Additionally, the Macular Degeneration Mutation Database and the Stargardt Mutation Database are specifically dedicated to genetic changes related to age-related macular degeneration and Stargardt’s disease, respectively. These databases catalog the different variants found in these conditions and provide information on their effects and associations. They also include additional resources such as genetic testing recommendations and clinical guidelines.

In conclusion, a variety of databases and resources exist for studying the ELOVL4 gene and its variants. These databases make it possible to catalog and analyze the genetic changes associated with conditions like age-related macular degeneration and Stargardt’s disease. Researchers and health professionals can rely on these databases to find the latest information, references, and testing recommendations related to the ELOVL4 gene and its variants.

References

• Variant of the ELOVL4 gene. Tests for Stargardt disease and other retinal degeneration conditions. Retrieved from PubMed
• Loss-of-function changes in the ELOVL4 gene. Health risks and genetic testing. Retrieved from PubMed
• Scientific articles related to the ELOVL4 gene. Retrieved from the PubMed database
• This registry provides additional information on ELOVL4 gene testing, genetic variants, and related diseases. Retrieved from the ClinVar database
• Endoplasmic reticulum-resident ELOVL4 protein. Information and resources. Retrieved from the Online Mendelian Inheritance in Man (OMIM) catalog
• Other genes associated with retinal degeneration and related conditions. Retrieved from the Online Mendelian Inheritance in Man (OMIM) catalog