ACOX1 gene
The ACOX1 gene (also known as Peroxisomal acyl-coenzyme A oxidase 1) is a genetic variant that plays a crucial role in the peroxisomal beta-oxidation pathway. This gene encodes an enzyme that is responsible for the first step in the breakdown of long-chain fatty acids, specifically palmitoyl-CoA, in peroxisomes. The ACOX1 gene has been extensively studied and its genetic changes have been linked to various conditions and diseases.
Information on the ACOX1 gene, including its related diseases and genetic variants, can be found in several scientific resources and databases. The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on the gene, including its alternative names, related diseases, and genetic conditions associated with ACOX1 deficiency.
In addition to OMIM, other databases and resources such as PubMed and clinical genetic testing laboratories have published articles and studies on the ACOX1 gene. These references provide further information on the role of ACOX1 in various diseases and conditions, as well as additional testing and diagnostic protocols related to the gene.
The ACOX1 gene and its role in the peroxisomal beta-oxidation pathway are of significant interest in scientific and clinical research. Understanding the genetic changes in this gene can provide insights into the development and treatment of conditions related to peroxisomal dysfunction and acyl-CoA oxidase deficiency.
Health Conditions Related to Genetic Changes
Genetic changes in the ACOX1 gene have been associated with various health conditions. These changes can affect the function of the acyl-coenzyme A oxidase 1 (ACOX1) enzyme, which plays a critical role in peroxisomal fatty acid oxidation.
Health conditions related to genetic changes in the ACOX1 gene include:
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- Peroxisomal acyl-coa oxidase deficiency: This deficiency is characterized by impaired peroxisomal fatty acid oxidation, resulting in the accumulation of specific fatty acids in the body. It can lead to symptoms such as developmental delay, muscle weakness, and liver problems.
- Cellular palmitoyl-CoA oxidase deficiency: This deficiency specifically affects the breakdown of palmitoyl-CoA, a type of fatty acid. It can cause a range of symptoms including muscle weakness, seizures, and intellectual disability.
- Other peroxisomal diseases: Genetic changes in the ACOX1 gene can also contribute to the development of other peroxisomal diseases, which are characterized by abnormalities in peroxisome function. These conditions can affect multiple organ systems and may present with various symptoms.
Genetic testing can be conducted to identify changes in the ACOX1 gene. This involves analyzing DNA samples to detect specific genetic variants associated with these health conditions. Information on genetic testing for ACOX1 gene changes can be found in scientific articles, databases, and resources such as OMIM and PubMed.
Additional resources for health professionals and individuals seeking more information on these health conditions include clinical registries, research articles, and genetic counseling services. These resources can provide further insight into the genetic changes in the ACOX1 gene and their implications for health.
Peroxisomal acyl-CoA oxidase deficiency
Peroxisomal acyl-CoA oxidase deficiency is a rare genetic condition that affects the peroxisomes in the cell. Peroxisomes are organelles responsible for various important biochemical processes, including the breakdown of fatty acids. Acyl-coenzyme A oxidase is an enzyme found within peroxisomes that plays a crucial role in the metabolism of several fatty acids, including palmitoyl-CoA.
Individuals with peroxisomal acyl-CoA oxidase deficiency have a mutation in the ACOX1 gene, which encodes the enzyme acyl-coenzyme A oxidase. This mutation results in a non-functional or reduced-function enzyme, leading to a disruption in the breakdown of fatty acids in peroxisomes.
The deficiency of acyl-coenzyme A oxidase can cause a range of health problems. The severity and specific symptoms can vary from person to person. Some individuals may experience developmental delays, neurological abnormalities, liver dysfunction, hypotonia, and muscle weakness. The condition may also be associated with an increased risk of certain conditions and diseases, including metabolic disorders and neurological disorders.
Testing for peroxisomal acyl-CoA oxidase deficiency typically involves genetic testing to identify mutations in the ACOX1 gene. Additional tests, such as biochemical tests or imaging studies, may be done to assess the extent of the metabolic changes and organ dysfunction.
Information about peroxisomal acyl-CoA oxidase deficiency can be found in various scientific resources and databases. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the genetic and clinical aspects of the condition, including references to relevant scientific articles. PubMed is another valuable resource for accessing scientific articles related to peroxisomal acyl-CoA oxidase deficiency.
The ACOX1 gene is just one of many genes involved in peroxisomal function and metabolism. Other genes and genetic conditions related to peroxisomes and fatty acid metabolism may have similar symptoms and can be related to or overlap with peroxisomal acyl-CoA oxidase deficiency. The Genetic and Rare Diseases Information Center (GARD) provides a comprehensive registry of genetic diseases, including peroxisomal disorders, which can serve as a valuable resource for additional information and support.
In summary, peroxisomal acyl-CoA oxidase deficiency is a rare genetic condition characterized by a deficiency or dysfunction of the acyl-coenzyme A oxidase enzyme within peroxisomes. This condition can have a wide range of symptoms and associated health problems. Genetic testing is a key step in diagnosing the condition, and resources such as OMIM and PubMed provide valuable information on the genetic and clinical aspects of peroxisomal acyl-CoA oxidase deficiency.
Other Names for This Gene
- Genetic Information from the ACOX1 Gene
- Peroxisomal Acyl-Coenzyme A Oxidase 1 Gene
- ACOX1 Gene
- Peroxisomal Acyl-CoA Oxidase 1 Gene
- Acyl-CoA Oxidase 1 Gene
The ACOX1 gene, also known as Peroxisomal Acyl-Coenzyme A Oxidase 1 gene, plays a crucial role in peroxisomes, cell structures that are responsible for various important functions in the body. This gene provides instructions for making an enzyme called acyl-coenzyme A oxidase 1, which catalyzes the first step in the breakdown of fatty acids.
The ACOX1 gene is associated with several genetic conditions and diseases. Mutations in this gene can lead to ACOX1 deficiency, which is characterized by a decrease or loss of acyl-coenzyme A oxidase 1 activity. This deficiency can result in impaired fatty acid oxidation and can manifest as various clinical symptoms.
Tests for ACOX1 gene mutations are available in genetic testing laboratories and can provide additional information for clinical diagnosis. Various databases and scientific articles provide resources and references related to the ACOX1 gene, its variants, and changes in its function. These resources can help in the genetic testing and diagnosis of diseases and conditions associated with the ACOX1 gene.
In addition to the ACOX1 gene, there are other genetic factors and genes involved in the metabolism of fatty acids and peroxisomes. A comprehensive understanding of these genes and their functions is essential for studying related health conditions and diseases.
The ACOX1 gene is listed in gene catalogs and genetic registries, which serve as centralized sources for genetic information. These resources facilitate research and provide a valuable repository of genetic data for scientists, researchers, and healthcare professionals.
References:
- ACOX1 gene – Pubmed article
- Genetic testing for ACOX1 gene mutations
- Peroxisomal Acyl-CoA Oxidase 1 deficiency
In summary, the ACOX1 gene, also known as Peroxisomal Acyl-Coenzyme A Oxidase 1 gene, plays a crucial role in peroxisomes and is associated with various genetic conditions and diseases. Genetic testing, scientific articles, and databases provide valuable resources and information related to this gene and its variants. The ACOX1 gene is an important gene to study for understanding fatty acid metabolism and related health conditions.
Additional Information Resources
- The ACOX1 gene is associated with various diseases and conditions related to changes in cell functioning. To learn more about this gene, you can refer to the following resources:
- Databases: There are several scientific databases that provide information on ACOX1 gene, including genetic variant testing and clinical resources. Some of the popular databases include PubMed, OMIM, and the GeneTests directory.
- PubMed: PubMed is a database of scientific articles and references related to biomedical research. You can find several articles related to ACOX1 gene in the database, including information on its functions, genetic changes, and associated diseases.
- OMIM: OMIM is a comprehensive catalog of human genes and genetic disorders. You can find detailed information about the ACOX1 gene, its associated diseases, and other related genes and conditions in the OMIM database.
- GeneTests: GeneTests is a diagnostic testing and research registry that provides information on genetic testing for various diseases. You can find information on ACOX1 gene testing, associated diseases, and available testing options in the GeneTests database.
- Peroxisomes: ACOX1 gene is involved in the peroxisomal beta-oxidation pathway, which is responsible for the breakdown of fatty acids in peroxisomes. For more information on peroxisomes and their role in cellular metabolism, you can refer to scientific articles and references related to peroxisomal function and diseases.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a comprehensive catalog of genetic tests available for clinical use. It serves as a central resource for information on genetic tests and their associated conditions.
The GTR includes tests related to the ACOX1 gene, which encodes the acyl-CoA oxidase 1 enzyme. This enzyme is involved in the breakdown of fatty acids within cells, specifically in peroxisomes. Changes in the ACOX1 gene can lead to a deficiency in acyl-CoA oxidase 1 activity and result in peroxisomal diseases.
Tests listed in the GTR provide information on various genetic changes associated with ACOX1 gene deficiency. These tests can help diagnose and manage conditions related to this gene, such as acyl-coenzyme A oxidase deficiency and palmitoyl-CoA oxidase deficiency.
The GTR provides additional resources for further scientific and clinical information. It includes references to articles from PubMed, OMIM, and other databases that provide in-depth information on these genes and related diseases. These resources are crucial for healthcare professionals and researchers seeking up-to-date information on genetic testing and related conditions.
Below is a list of tests related to the ACOX1 gene, as listed in the Genetic Testing Registry:
| Test Name | Condition |
|---|---|
| ACOX1 Variant Analysis | Acyl-CoA oxidase deficiency |
| ACOX1 Gene Sequencing | Palmitoyl-CoA oxidase deficiency |
Please note that this list may not be exhaustive and there may be additional tests available for these conditions. It is recommended to consult the Genetic Testing Registry for the most up-to-date and comprehensive information on genetic tests related to the ACOX1 gene and associated conditions.
Scientific Articles on PubMed
When researching the ACOX1 gene, it is important to refer to scientific articles that are listed on PubMed. These articles provide valuable information about the gene, its functions, and its potential role in various conditions and diseases.
One variant of the ACOX1 gene, known as the c.321delC variant, has been found to cause changes in peroxisomal acyl-coA oxidase. This variant is associated with a deficiency in palmitoyl-CoA oxidase activity, leading to health conditions such as peroxisomal diseases.
PubMed is a registry of articles that provides a wealth of information about the ACOX1 gene and related topics. It offers additional resources such as OMIM, which catalogues genetic information, and clinical testing information for various conditions.
By searching PubMed, researchers can find articles that specifically discuss the ACOX1 gene, its functions, and its potential implications in different diseases. These articles can provide references to genetic testing databases, where individuals can access tests for ACOX1 gene variants and related conditions.
| Benefits of Using PubMed: |
|---|
| 1. Comprehensive Coverage: PubMed is a vast database that covers a wide range of scientific articles and research papers related to genetics and peroxisomal diseases. |
| 2. Accessible Information: The articles listed on PubMed provide detailed information about the ACOX1 gene, including its functions, genetic variants, and associated diseases. |
| 3. Reliable Resources: PubMed provides access to reliable sources such as OMIM and clinical testing databases, ensuring that the information obtained is accurate and up-to-date. |
| 4. Genetic Testing Information: PubMed can provide information on genetic testing options for ACOX1 gene variants and related conditions, helping individuals gain insights into their genetic makeup. |
In conclusion, PubMed is a valuable resource for finding scientific articles related to the ACOX1 gene. These articles offer insights into the functions of the gene, genetic variants, and their association with different diseases. By referring to PubMed, researchers and individuals can access reliable and up-to-date information to further advance their understanding of the ACOX1 gene and its implications in health and disease.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM provides a comprehensive collection of genetic information related to various diseases. This catalog includes data on the ACOX1 gene deficiency, testing methods, PubMed articles, and more.
The ACOX1 gene is listed in the catalog as a peroxisomal gene involved in the first step of the peroxisomal long-chain fatty acid beta-oxidation pathway. It encodes the acyl-coenzyme A oxidase, which is responsible for the breakdown of fatty acids in peroxisomes. Deficiency in this gene can lead to various clinical conditions.
In the Catalog, you can find information about genetic tests available for ACOX1 gene deficiency. These tests can help identify any changes or mutations in the gene that may result in health issues. Additionally, the catalog provides references to scientific articles published in PubMed, which contain further details about the ACOX1 gene and related conditions.
The catalog also includes information on other genes and conditions related to acyl-coA oxidase deficiency. It serves as a valuable resource for researchers, healthcare professionals, and individuals interested in genetic testing and research. The catalog is constantly updated with new findings and resources.
Key Features of the Catalog:
- Comprehensive information on the ACOX1 gene and related diseases
- Genetic tests for ACOX1 gene deficiency
- List of PubMed articles for further reading
- References to additional databases and resources
By exploring the Catalog of Genes and Diseases from OMIM, individuals can gain a better understanding of the genetic basis of various health conditions and access resources to support clinical and genetic testing.
Gene and Variant Databases
The ACOX1 gene is associated with various diseases and conditions related to acyl-coenzyme A oxidase deficiency, a genetic disorder that affects peroxisomes in the cell. These conditions can lead to changes in the metabolism of acyl-CoA substrates such as palmitoyl-CoA.
For additional information on the ACOX1 gene and its related conditions, there are several gene and variant databases available. These databases provide a comprehensive catalog of genetic variants, clinical tests, and references for scientific articles.
- OMIM: OMIM is a comprehensive resource for genetic information and is a great starting point for researching genetic conditions related to ACOX1. It provides detailed information on genes, phenotypes, and clinical tests.
- PubMed: PubMed is a database of scientific articles and publications. Searching for ACOX1 or its related terms can provide a wealth of information on the genetic basis of diseases and conditions.
- GeneReviews: GeneReviews is a database that provides up-to-date and accessible information on genetic conditions. It includes detailed overviews, genetic testing information, and additional resources for patients, families, and healthcare providers.
- Genetic Testing Registry: The Genetic Testing Registry lists tests offered for ACOX1 and other genes. It provides information on the purpose of the test, its methodology, and the availability of the test.
These gene and variant databases are valuable resources for researchers, healthcare providers, and individuals interested in learning more about ACOX1 and its related conditions. They provide access to a wealth of information, references, and clinical testing resources.
References
- Genetic Testing Registry (GTR) – ACOX1 gene
- ACOX1 deficiency – Genetics Home Reference
- ACOX1 gene – GeneCards
- ACOX1 – OMIM
- ACOX1 – PubMed articles
- ACOX1 – Scientific articles in PubMed
- ACOX1 – Additional information resources