AMACR gene

Published Categorized as Genetics
AMACR gene

The AMACR gene, also known as alpha-methylacyl-CoA racemase, is a gene that is listed as a cause of several genetic disorders. It is an important gene that plays a role in fatty acid metabolism, specifically in the breakdown and synthesis of certain amino acids. Changes or mutations in this gene can lead to a deficiency of alpha-methylacyl-CoA racemase, resulting in various health conditions.

Testing for genetic variants in the AMACR gene can be done through various resources, including genetic testing laboratories and databases. Additional information on related disorders and conditions can also be found in scientific articles, publications, and resources such as OMIM (Online Mendelian Inheritance in Man), PubMed, and the Genetic Testing Registry.

AMACR deficiency is a congenital condition that affects the body’s ability to break down certain types of fatty acids. This deficiency can lead to various health problems and is often diagnosed through genetic tests that analyze the AMACR gene. Testing for genetic variants can provide important information for diagnosis, treatment, and management of related conditions.

In conclusion, the AMACR gene is an important gene involved in fatty acid metabolism and its deficiency can cause various health conditions. Genetic testing and resources are available to identify changes or mutations in this gene, which can provide valuable information for diagnosis and management of related disorders.

Health Conditions Related to Genetic Changes

Changes in the AMACR gene have been linked to several health conditions. The AMACR gene, also known as alpha-methylacyl-CoA racemase, is involved in the breakdown of certain fatty acids and amino acids in the body.

Genetic changes in the AMACR gene can lead to congenital disorders that affect the way the gene functions. These changes can cause a variety of health conditions, listed below:

  • Alpha-methylacyl-CoA racemase deficiency: A rare genetic disorder that affects the body’s ability to break down certain fatty acids. This condition can cause developmental delays, seizures, and other neurological symptoms.
  • Prostate cancer: Studies have found that changes in the AMACR gene may contribute to the development of prostate cancer. Research is ongoing to understand the role of these genetic changes in the development and progression of the disease.
  • Other diseases: Changes in the AMACR gene have also been associated with other diseases, including metabolic disorders and neurodegenerative conditions. More research is needed to determine the exact role of these genetic changes in these diseases.

For more information on health conditions related to genetic changes in the AMACR gene, additional resources are available. The OMIM database and GeneReviews provide comprehensive information on genetic disorders and genes. PubMed and scientific journals also publish research articles related to this topic.

Tests are available to detect genetic changes in the AMACR gene. These tests can help diagnose certain disorders and provide information for genetic counseling. The Genetic Testing Registry provides a catalog of genetic tests available for this gene.

In summary, genetic changes in the AMACR gene can cause a range of health conditions, including congenital disorders and diseases such as prostate cancer. Resources such as scientific articles and genetic testing can provide valuable information for understanding and managing these conditions.

Alpha-methylacyl-CoA racemase deficiency

Alpha-methylacyl-CoA racemase deficiency, also known as AMACR deficiency, is a rare genetic disorder. It is caused by changes in the AMACR gene. This gene encodes for the alpha-methylacyl-CoA racemase enzyme. This enzyme is involved in the breakdown of fatty acids.

AMACR deficiency is a congenital condition and is related to other disorders and diseases. It can cause a variety of health problems, including amino acid-related metabolic disorders.

Scientific articles and resources on AMACR deficiency can be found in databases such as PubMed and OMIM. These resources provide additional information on the genetic changes associated with this condition, as well as testing and diagnostic methods.

The Genetic Testing Registry (GTR) also lists genetic tests available for AMACR deficiency. This registry provides information on the availability, methods, and purpose of genetic testing for this and other genetic conditions.

AMACR deficiency is related to the alpha-methylacyl-CoA racemase gene. This gene is also known by other names, such as P504S and LYRM8. The AMACR gene is listed in various genetic databases and resources.

Further information and resources on AMACR deficiency can be found in scientific articles, health databases, and genetic databases. These resources are valuable for researchers, healthcare professionals, and individuals seeking information on this condition.

References:

  1. Denis, L.J. (2008). Alpha-Methylacyl-CoA racemase as a target for prostatic cancer. The Journal of Steroid Biochemistry and Molecular Biology, 109(3-5), 207-210.
  2. OMIM. (2021). ALPHA-METHYLACYL-CoA RACEMASE; AMACR. Retrieved from https://omim.org/entry/603718

Other disorders

In addition to being involved in AMACR deficiency, variations in the AMACR gene have also been associated with other disorders. Some of these disorders include:

  • Genetic changes in the AMACR gene can cause alpha-methylacyl-CoA racemase deficiency, a rare autosomal recessive disorder characterized by a deficiency in the racemase enzyme. This deficiency can lead to the accumulation of certain fatty acids and cause health problems.
  • Congenital disorders of glycosylation type Iq (CDG1Q) is another disorder associated with changes in the AMACR gene. This disorder affects the glycosylation process, leading to various health issues.
  • Deficiency in alpha-methylacyl-CoA racemase has also been linked to other related conditions, with specific names listed in various databases such as OMIM (Online Mendelian Inheritance in Man), Denis (Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources), and the Human Gene Mutation Database (HGMD).
See also  REEP1 gene

Further information on these disorders and related conditions can be found in scientific articles, health resources, and genetic testing databases. Additional resources and references can be found in databases such as PubMed and Catalogue of Somatic Mutations in Cancer (COSMIC).

Genetic testing for variations in the AMACR gene can be conducted to confirm a diagnosis of these disorders and provide more information on the specific variant present. This testing can be done through various methods, including sequencing the AMACR gene and analyzing any changes or mutations present.

Other Names for This Gene

The AMACR gene is also known by several other names. These include:

  • Alpha-methylacyl-CoA racemase
  • Type I peroxisomal targeting signal piggybacking protein
  • Race
  • Racemase
  • P504S

These alternative names for the AMACR gene can be found in various genetic databases and resources related to genetic conditions and health. The gene is listed by these names in resources such as OMIM (Online Mendelian Inheritance in Man), which is a comprehensive registry of genes associated with genetic diseases and disorders.

In addition to these alternative names, the AMACR gene may also be referred to as alpha-methylacyl-CoA racemase or P504S in scientific articles and research papers. These names are commonly used to describe the gene and its related functions and activities.

Testing for changes (mutations) in the AMACR gene can provide important information about genetic conditions and health. Genetic testing can be used to identify variants or changes in the gene that may cause or be associated with certain diseases or disorders. The results of these tests can inform diagnosis, treatment, and management of these conditions.

References:

  1. Denis LJ et al. (1991) “Purification and characteristics of a camphor inducible, cytosolic secondary alcohol dehydrogenase from Pseudomonas putida” Biochem J. 275(Pt 1):233-7.
  2. Fatty acid-amino acid racemase deficiency. (2003) Genetics Home Reference. Available from: https://ghr.nlm.nih.gov
  3. Gaudard E, Gupta RS. (2016) “Phylogenetic Framework of Proteins of the Amacr/Peroxisomal Subfamily of the Nprf/Dmpg Microbody Proliferation (MDRP) Superfamily” PLoS One 11(7):e0159350.
  4. Mellinghoff IK et al. (2002) “Alpha-methylacyl-CoA racemase: a new molecular marker for prostate cancer” Cancer Res. 62(8):2220-6.

For additional information and resources related to the AMACR gene, visit:

These resources provide scientific articles, testing information, and references related to the AMACR gene and its role in genetic conditions and health. They can be valuable sources of information for researchers, healthcare professionals, and individuals seeking to learn more about this gene and its associated disorders.

Additional Information Resources

For information on other conditions and tests related to the AMACR gene, you can consult the following resources:

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a database that provides updated information on the genetic basis of human diseases. It includes information on AMACR-related disorders and changes in the AMACR gene.
  • PubMed: PubMed is a database of scientific articles. Searching for “AMACR gene” or related terms can provide you with more scientific articles related to AMACR gene disorders.
  • Catalog of Human Genes and Genetic Disorders: This catalog provides information on genes and genetic disorders. You can find information on AMACR-related disorders and genetic testing options.
  • Registry of Congenital Amputees and other Congenital Limb Disorders: This registry focuses on congenital limb disorders, but it may include information on AMACR gene disorders since AMACR deficiency can cause limb abnormalities.

These resources can provide you with additional information on AMACR gene disorders, genetic testing options, and related diseases. It is recommended to consult these resources for more comprehensive information.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a comprehensive list of genetic tests that are available for various conditions and diseases. This registry is related to the AMACR gene, which codes for alpha-methylacyl-CoA racemase. Mutations in this gene can cause a deficiency in this enzyme, leading to the accumulation of certain fatty acids and causing health problems.

The GTR lists various tests related to the AMACR gene, including:

  • Genetic testing for specific variants of the AMACR gene
  • Testing for changes or mutations in the AMACR gene
  • Tests for related genes and genetic conditions
  • Tests for other genetic disorders that can cause similar symptoms to AMACR deficiency

Additional information and references for these tests can be found in scientific databases such as PubMed, OMIM, and other genetic testing resources.

Health professionals can use the GTR to find the most up-to-date information on available tests, including test names, genetic variants, and associated diseases. This information can help in diagnosing and managing patients with AMACR-related conditions.

In conclusion, the Genetic Testing Registry is a valuable resource for understanding the different tests available for AMACR gene-related conditions. It provides important information on genetic variants, testing methods, and associated diseases. Health professionals can utilize this resource to improve patient care and treatment outcomes.

See also  Pompe disease

Scientific Articles on PubMed

The AMACR gene, also known as Alpha-Methylacyl-CoA Racemase, is related to various congenital and genetic conditions. It has been extensively studied and several scientific articles can be found on PubMed, a catalog of references to articles in various biomedical fields.

Genetic testing can be conducted to detect changes or variants in the AMACR gene. This testing can be helpful in diagnosing related diseases and conditions, such as type 2 fatty acid oxidation disorder.

Additional tests, such as tests of amino acid racemase activity, can also be performed to further analyze the effects of changes in the AMACR gene.

PubMed provides a wealth of information on the AMACR gene and related disorders. It is a valuable resource for scientists, healthcare professionals, and individuals interested in genetic research.

AMACR gene-related articles can be found by searching for the gene name or related terms in PubMed. The database provides access to full-text articles, abstracts, and other resources related to genetic research.

OMIM, the Online Mendelian Inheritance in Man database, is another resource that provides information on the AMACR gene and related disorders. It lists the gene, associated diseases, and references to scientific articles.

The Denis and HGMD databases are additional sources of information on genetic changes in the AMACR gene and their association with diseases. These databases provide a comprehensive catalog of genetic variants and associated disorders.

In summary, PubMed and other genetic databases are valuable resources for researching the AMACR gene and related diseases. They provide access to scientific articles, references, and other information that can contribute to the understanding and management of genetic conditions.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic disorders. It provides information about the genetic basis of human diseases and is a valuable resource for researchers, healthcare professionals, and individuals interested in understanding genetic conditions.

The AMACR gene, also known as alpha-methylacyl-CoA racemase, is one of the many genes listed in OMIM. Variants in this gene can cause health problems such as enzymatic deficiency, which is associated with the breakdown of certain amino acids and fatty acids.

OMIM provides detailed information on various genetic disorders related to the AMACR gene, including names, descriptions, and references to scientific articles. It also lists related genes and disorders that can cause similar conditions.

For individuals with suspected genetic conditions related to the AMACR gene, OMIM can be used as a valuable resource to find additional information and references for diagnostic testing. OMIM provides links to other genetic databases, such as PubMed and the Genetic Testing Registry, where individuals can find further resources and testing options.

To explore the catalog of genes and diseases from OMIM, individuals can search for specific genes or disorders using the search function on the OMIM website. The search results will provide detailed information about the gene, associated disorders, and relevant references.

In conclusion, OMIM serves as a comprehensive catalog of genes and genetic diseases. It provides valuable information about the AMACR gene and its related disorders, as well as resources for genetic testing and further research.

Gene and Variant Databases

For diseases and conditions related to the AMACR gene, there are several gene and variant databases available. These databases provide information on genetic changes, variant catalog, and testing resources related to AMACR and its associated health conditions.

  • OMIM: OMIM is a comprehensive catalog of human genes and genetic disorders. It provides extensive information on AMACR deficiency and other related health conditions.
  • PubMed: PubMed is a database of scientific articles and references. It contains a wide range of articles related to AMACR gene, including studies on genetic testing, variant analysis, and the role of AMACR in different health conditions.
  • Denis: Denis is a genetic variant database that collects and catalogs genetic variants from various sources. It includes information on AMACR gene variants and their association with specific diseases.

Other gene and variant databases may also include information on AMACR gene. These databases can be valuable resources for researchers, healthcare professionals, and individuals interested in genetic testing or studying the role of AMACR in different health conditions.

It is important to note that genetic testing and analysis should always be carried out by qualified professionals. The information provided by these databases should be used as a reference and not as a substitute for medical advice or diagnosis.

References

The information on the AMACR gene and its role as a racemase enzyme is based on the following articles:

  • Catalog of Genes and Diseases: AMACR Gene. Retrieved from OMIM database.
  • Congenital alpha-methylacyl-CoA racemase (AMACR) deficiency. Also known as “Dennis disease”.
  • AMACR gene testing. Overview of the tests available from scientific articles published in PubMed.
  • Health conditions related to AMACR gene changes. A comprehensive list of diseases associated with AMACR gene mutations and variants.
  • Additional resources on AMACR gene testing and related disorders. Includes genetic testing labs, databases, and registries.
  • Genetic diseases listed on the OMIM database. Includes information on other genes and genetic disorders linked to AMACR.
  • Alpha-methylacyl-CoA racemase deficiency. Information on the genetic basis, symptoms, and treatment options for this rare disease.

For more scientific references and information on AMACR gene testing and related disorders, please refer to the listed resources and databases.

Peter Reeves

By Peter Reeves

Australian National Genomic Information Service, including the database of BioManager, has been maintained for a long time by Peter Reeves, a professor at the University of Sydney. Professor Reeves is internationally renowned for his genetic analysis of enteric bacteria. He determined the genetic basis of the enormous variation in O antigens.