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The ALDH3A2 gene is a member of the aldehyde dehydrogenase gene family. It is located on chromosome 17. The gene codes for the enzyme fatty aldehyde dehydrogenase, which is involved in the metabolism of aldehydes in the body. Defects in this gene have been found to be related to the development of Sjögren-Larsson syndrome, a rare genetic disorder that affects the skin, eyes, and central nervous system.

The ALDH3A2 gene is listed in various genetic databases and resources, such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases provide additional information on the gene and its associated conditions. Researchers and scientists can find articles, reviews, and studies related to the ALDH3A2 gene and its variants.

Testing for changes in the ALDH3A2 gene can be done through genetic tests. These tests can help diagnose or confirm the presence of Sjögren-Larsson syndrome. Health professionals may also use these tests to identify carriers of the gene mutation or provide genetic counseling for individuals and families affected by the syndrome.

The ALDH3A2 gene is just one of the many genes associated with various diseases and conditions. Scientific research continues to explore the role of genes and their variants in human health and disease. Understanding the function and regulation of genes like ALDH3A2 is crucial for advancing knowledge in the field of genetics and developing targeted treatments for genetic disorders.

Genetic changes in the ALDH3A2 gene can lead to various health conditions. One such condition is Sjögren-Larsson syndrome, which is caused by changes in the ALDH3A2 gene.

Sjögren-Larsson syndrome is a rare autosomal recessive disorder characterized by the triad of ichthyosis (scaly skin), intellectual disability, and spastic diplegia or tetraplegia (muscle stiffness and weakness). Individuals with this syndrome also have additional features such as short stature, seizures, and vision problems.

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The ALDH3A2 gene provides instructions for making an enzyme called fatty aldehyde dehydrogenase. This enzyme is involved in the breakdown of toxic fatty aldehydes, which are produced when the body breaks down certain fats. Mutations in the ALDH3A2 gene result in a nonfunctional or reduced-functioning enzyme, leading to the buildup of fatty aldehydes. It is believed that these toxic substances contribute to the development of the signs and symptoms associated with Sjögren-Larsson syndrome.

The ALDH3A2 gene and its genetic changes are listed in various databases and resources for genetic testing and research. These include the Online Mendelian Inheritance in Man (OMIM) database, which provides comprehensive information on genes and genetic conditions, as well as PubMed, a database of scientific articles. These resources are valuable for clinicians, researchers, and individuals seeking more information on Sjögren-Larsson syndrome and other related health conditions.

In addition to the ALDH3A2 gene, other genes and genetic changes have been found to be associated with similar health conditions. Testing for these genes and genetic changes can be done through genetic testing, such as whole exome sequencing or targeted gene panel testing. A genetic counselor can provide more information on available testing options and help individuals understand the implications of genetic testing results.

Furthermore, organizations like the Genetic and Rare Diseases Information Center (GARD) and disease-specific foundations provide resources and support for individuals and families affected by these conditions. These resources offer information on symptoms, treatment options, ongoing research, and support groups.

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It is important for individuals with a family history of Sjögren-Larsson syndrome or related health conditions to seek proper medical care and genetic counseling. Genetic testing can help in confirming a diagnosis and provide information on potential treatment options and management plans.

References:

Sjögren-Larsson syndrome

Sjögren-Larsson syndrome is a rare scientific genetic disorder that was first described by Sjögren and Larsson in 1957. It is caused by mutations in the ALDH3A2 gene, which is responsible for producing an enzyme called fatty aldehyde dehydrogenase.

The OMIM (Online Mendelian Inheritance in Man) database lists Sjögren-Larsson syndrome as OMIM #270200. Additional information about this syndrome can be found in the scientific literature, including articles available for public reading through PubMed.

Sjögren-Larsson syndrome is characterized by a triad of symptoms: ichthyosis, neurological impairment, and intellectual disability. The skin condition ichthyosis is often the first noticeable symptom, with dry, scaly skin that resembles fish scales. Neurological impairment varies widely and can include spasticity, seizures, and impaired coordination.

The ALDH3A2 gene is responsible for breaking down toxic aldehydes, which are produced during the metabolism of certain fats. Mutations in this gene lead to a deficiency in fatty aldehyde dehydrogenase activity, resulting in the accumulation of aldehydes in the body.

Testing for Sjögren-Larsson syndrome typically involves genetic testing to identify changes or variants in the ALDH3A2 gene. This can be done through commercial genetic testing companies or specialized laboratories. Genetic counseling is also recommended for affected individuals and their families to understand the implications of test results and the genetic nature of the condition.

It is important to note that Sjögren-Larsson syndrome is just one of many conditions related to changes in genes involved in fatty acid metabolism. Other diseases with similar symptoms and genetic causes exist, and genetic testing can help differentiate between them.

For more information about Sjögren-Larsson syndrome, you can refer to the following resources:

  • OMIM: The OMIM entry for Sjögren-Larsson syndrome provides comprehensive information about the syndrome, including genetic and clinical details.
  • PubMed: PubMed is a database of scientific articles, and searching for “Sjögren-Larsson syndrome” will yield a list of research papers and case reports on this condition.
  • Genetic testing: Commercial genetic testing companies and specialized laboratories offer tests for Sjögren-Larsson syndrome and related conditions. These tests can provide information about the specific genetic changes associated with the syndrome.
  • Genetic databases: Databases such as ClinVar and the Human Gene Mutation Database (HGMD) catalog genetic variants associated with Sjögren-Larsson syndrome and provide information about their clinical significance.

Family and health care providers can utilize these resources to learn more about the condition, its genetic basis, and available testing options. They can also access information on support groups and registries that offer additional assistance and connect individuals living with Sjögren-Larsson syndrome.

Other Names for This Gene

  • -ALDH10
  • -ALDH10A1
  • -ALDH10A2
  • -ALDH3
  • -ALDHIII
  • -ALDHIIIA1
  • – fatty aldehyde dehydrogenase
  • – fatty aldehyde dehydrogenase, microsomal
  • – fatty aldehyde dehydrogenase/Malonyl-CoA decarboxylase
  • – fatty aldehyde:NAD+ oxidoreductase

Additional Information Resources

For additional information and resources related to the ALDH3A2 gene and its associated conditions, the following databases and scientific articles can be consulted:

  • OMIM (Online Mendelian Inheritance in Man) – Provides comprehensive information on genetic variants, diseases, and genes. The ALDH3A2 gene and related conditions, such as Sjögren-Larsson syndrome, can be found in the OMIM catalog.

  • PubMed – A database of scientific articles and references. Searching for “ALDH3A2 gene” or the specific conditions associated with it can provide additional research articles and studies on this topic.

  • Genetic Testing Registry – Offers information on genetic tests available for the ALDH3A2 gene and associated conditions. It lists the names of tests, testing labs, and related health conditions.

  • GeneReviews – Provides in-depth information on specific genes and associated diseases. A GeneReview article on ALDH3A2 can further address the genetic changes found in this gene and the resulting conditions.

  • UCSC Genome Browser – Offers a visual representation of the ALDH3A2 gene and its location in the genomic sequence. It provides a detailed view of the gene’s structure and neighboring genes.

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Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a catalog of genetic tests for the ALDH3A2 gene, along with other related genes. These tests help in determining the presence of variant changes in the ALDH3A2 gene that are associated with health conditions such as Sjögren-Larsson syndrome.

Testing for changes in the ALDH3A2 gene can be done using various methods, including sequencing the entire gene, targeted analysis for specific variants, or detecting gene deletions or duplications. The GTR lists multiple tests that have been developed to identify these genetic changes.

In addition to the ALDH3A2 gene, the GTR also includes tests for other genes related to Sjögren-Larsson syndrome and other diseases. The GTR is a valuable resource for healthcare professionals and researchers to find information about available genetic tests and their associated conditions.

Further information about these tests and their applications can be found in scientific articles, databases such as OMIM, and other genetic testing resources. The GTR provides links to related articles and references, including those from PubMed, for additional information and further research.

Genetic testing for the ALDH3A2 gene and related genes plays a crucial role in the diagnosis and management of Sjögren-Larsson syndrome and other associated conditions. The GTR serves as a centralized and comprehensive repository of information, ensuring access to accurate and up-to-date information on available genetic tests.

Genes Tests Test Type
ALDH3A2 Sjögren-Larsson Syndrome Sequencing, Targeted Analysis, Gene Deletion/Duplication
Other Related Genes Various diseases Depends on the gene

Scientific Articles on PubMed

The ALDH3A2 gene, also known as the ALDH10 gene, is linked to several health conditions. To explore the genetics and characteristics of these conditions, PubMed provides a comprehensive catalog of scientific articles and references.

PubMed is one of the largest databases of scientific literature, offering a wide range of resources related to genetic studies. Here, you can find articles on various aspects of the ALDH3A2 gene, including its function, expression, and role in specific diseases.

One notable condition associated with the ALDH3A2 gene is Sjögren-Larsson syndrome. Research published on PubMed focuses on the genetic basis of this syndrome and explores the relationship between ALDH3A2 gene changes and the manifestation of the disease.

Testing for changes in ALDH3A2 gene is an essential component in diagnosing Sjögren-Larsson syndrome and other related diseases. PubMed provides access to articles that discuss different testing methods, such as genetic sequencing and screening for specific ALDH3A2 gene variants.

Scientific articles listed on PubMed cover a broad spectrum of topics and include studies on other genes as well. These articles can provide valuable insights and information on the genetics of various diseases, making PubMed a vital resource for researchers and healthcare professionals.

In addition to articles, PubMed also features references from other databases like OMIM, the Online Mendelian Inheritance in Man, which provides further genetic information on diseases linked to the ALDH3A2 gene, as well as related family names and genetic registries.

In conclusion, PubMed is a valuable source for accessing scientific articles and resources related to the ALDH3A2 gene and its role in various health conditions. Whether you are looking for information on specific genes, testing methods, or the genetics of certain diseases, PubMed offers a wealth of knowledge that can assist in research and clinical practice.

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Catalog of Genes and Diseases from OMIM

OMIM, or the Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and diseases. It provides valuable information on genetic disorders and the genes associated with them. Here, we focus on the ALDH3A2 gene and related conditions.

The ALDH3A2 gene, also known as fatty aldehyde dehydrogenase, encodes an enzyme that is responsible for breaking down toxic aldehydes in the body. Mutations in this gene can lead to the development of various disorders.

– Sjögren-Larsson syndrome: This is a rare genetic disorder characterized by the triad of spasticity, ichthyosis, and intellectual disability. It is caused by mutations in the ALDH3A2 gene, resulting in the accumulation of fatty aldehydes.

To diagnose Sjögren-Larsson syndrome, genetic testing is available. This involves analyzing the ALDH3A2 gene for any changes or variants. Several tests can be conducted to identify these genetic changes.

Additional scientific articles and resources related to ALDH3A2 and Sjögren-Larsson syndrome can be found in OMIM. They provide further information on the gene, related diseases, testing methods, and references for further reading.

The catalog in OMIM includes information on other genes and conditions as well. Users can search for specific genes or diseases, and browse through the available resources. The database is regularly updated with new findings and research.

OMIM is an invaluable resource for researchers, clinicians, and individuals interested in genetic health conditions. It serves as a registry of genes and diseases, providing comprehensive information to aid in diagnosis and treatment.

References:

  1. OMIM – ALDH3A2 gene.
  2. OMIM – Sjögren-Larsson syndrome.
  3. PubMed – Variant ALDH3A2 gene testing.

Gene and Variant Databases

Several databases provide valuable resources for researchers, health professionals, and individuals interested in the ALDH3A2 gene and related variants. These databases contain articles, scientific references, and other information on genetic conditions and genes, including the SJögren-Larsson syndrome caused by changes in the ALDH3A2 gene.

Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the ALDH3A2 gene, along with references to related articles and scientific research.

PubMed is a free resource that provides access to a vast collection of scientific articles. Researchers can search for specific articles on the ALDH3A2 gene and related conditions.

The Human Gene Mutation Database (HGMD) is a valuable resource for genetic testing. It contains information on disease-causing mutations in various genes, including the ALDH3A2 gene.

The Alliance for Genomic Resources is a collaborative effort that provides information on a wide range of genes and variants. Their database includes information on the ALDH3A2 gene and other genes associated with various diseases.

The Genetic Testing Registry (GTR) is a central location for information on genetic tests. It provides information on available tests, including those for the ALDH3A2 gene and related conditions.

The Human Variome Project is an international collaboration that aims to collect and share information on genetic variants and diseases. They provide a database of genetic variants, including those associated with the ALDH3A2 gene and SJögren-Larsson syndrome.

These databases and resources offer a wealth of information for researchers, health professionals, and individuals interested in the ALDH3A2 gene and related genetic conditions. They provide access to articles, scientific references, testing information, and other resources that can contribute to a better understanding of the role of the ALDH3A2 gene in human health.

References

  • OMIM: Online Mendelian Inheritance in Man. ALDH3A2 Gene. Available from: https://www.omim.org/entry/**gene_ID**
  • PubMed: ALDH3A2 gene. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=ALDH3A2+gene
  • Sjögren-Larsson Syndrome Registry. Available from: https://www.slsr.org/
  • Databases of genetic changes for ALDH3A2 gene:
    • Database 1
    • Database 2
    • Database 3
  • Scientific Articles on ALDH3A2 gene:
    • Article 1
    • Article 2
    • Article 3
  • Additional resources and tests:
    • Resource 1
    • Resource 2
    • Test 1
    • Test 2
  • Related genes and conditions:
    • Gene 1
    • Gene 2
    • Gene 3
    • Condition 1
    • Condition 2
    • Condition 3
  • Catalog of ALDH3A2 gene names:
    • Name 1
    • Name 2
    • Name 3
  • Diseases associated with ALDH3A2 gene:
    • Disease 1
    • Disease 2
    • Disease 3

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