The ATP7A gene, also known as copper-transporting ATPase, is responsible for a disease called Menkes syndrome. This genetic condition affects the nervous system and leads to reduced levels of copper-containing enzymes in cells. The ATP7A gene provides instructions for making a protein that is involved in the transport of copper. Mutations in this gene can disrupt the function of this protein and lead to the signs and symptoms of Menkes syndrome.

Testing for mutations in the ATP7A gene can be done using various molecular genetic tests. These tests can provide valuable information for the diagnosis and management of Menkes syndrome. Databases such as OMIM and PubMed provide additional information and references on this gene and related diseases.

Other conditions related to mutations in the ATP7A gene include cutis laxa and Charcot-Marie-Tooth disease. The ATP7A gene is listed in the Human Gene Catalog, and scientific articles on this gene and its function can be found in various health and scientific resources.

In conclusion, the ATP7A gene plays a crucial role in the transport of copper and is associated with diseases such as Menkes syndrome. Testing for mutations in this gene can provide important information for diagnosis and management of these conditions. Various databases and scientific resources provide additional information and references on this gene and related diseases.

Genetic changes in the ATP7A gene can lead to various health conditions. These conditions can affect the nervous system, resulting in neurodevelopmental delay and intellectual disability. PubMed, a database of scientific articles, can provide additional information on these health conditions and the genetic changes associated with them. In some cases, these conditions are listed in disease registries and databases under different names.

One of the health conditions related to changes in the ATP7A gene is Menkes disease, also known as Menkes syndrome. This disease is characterized by reduced levels of copper in the body, which affects the function of enzymes and proteins. The symptoms of Menkes disease include neurological problems, hair abnormalities, and poor growth.

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Another health condition related to genetic changes in the ATP7A gene is called Charcot-Marie-Tooth disease, a group of inherited nerve disorders affecting the peripheral nervous system. ATPase copper transporting alpha (ATP7A) is one of the genetic variants associated with certain subtypes of Charcot-Marie-Tooth disease.

Scientific articles and resources like Online Mendelian Inheritance in Man (OMIM) provide information on these genetic changes and their association with health conditions. Genetic testing can be used to diagnose these diseases and provide information on their prognosis and management.

In addition, there are other health conditions related to genetic changes in copper-containing ATPase genes, such as ATP7B, which are involved in cellular copper transport and metabolism. These conditions may manifest as metabolic disorders affecting various organs and systems in the body.

Further research and genetic studies are necessary to better understand the molecular and cellular mechanisms underlying these health conditions related to genetic changes in the ATP7A gene and other related genes. The catalog of genetic changes and references in scientific literature can provide valuable insights into these conditions and contribute to the development of potential treatments and interventions.

Cutis laxa

Cutis laxa is a genetic condition characterized by loose, sagging skin that is often wrinkled and hangs in folds. It can affect different parts of the body, including the face, neck, arms, and trunk. The laxity of the skin is due to a loss of elasticity and support in the connective tissues.

One of the genetic causes of cutis laxa is mutations in the ATP7A gene. The ATP7A gene provides instructions for making a protein called copper-transporting ATPase, which is involved in the transport of copper in the body. Mutations in the ATP7A gene lead to reduced or impaired function of this protein, which affects the proper distribution of copper in the body.

In addition to the ATP7A gene, other genes and enzymes have also been associated with cutis laxa. These include various variants of the ATPase gene as well as other copper-containing enzymes. The exact mechanisms and interactions between these genes and proteins are still being studied.

Cutis laxa can be inherited in different ways, including autosomal dominant, autosomal recessive, and X-linked recessive patterns. One of the well-known X-linked recessive forms of cutis laxa is called Menkes disease. Menkes disease is caused by mutations in the ATP7A gene, resulting in severe copper deficiency and affecting the development of the nervous system.

Diagnosis of cutis laxa can be challenging due to its clinical variability and overlap with other conditions. Genetic testing can help confirm the diagnosis by identifying mutations in the ATP7A gene or other associated genes. Various molecular genetic tests are available, including sequencing of the ATP7A gene and targeted mutation analysis.

For additional information on cutis laxa and related genetic conditions, resources such as OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry can provide valuable references and names of scientific articles. These databases offer a wealth of information on the molecular genetics and clinical features of various diseases.

See also  CLN2 disease

In summary, cutis laxa is a genetic disorder characterized by loose and sagging skin. Mutations in the ATP7A gene and other associated genes play a role in the development of this condition. Genetic testing is available to confirm the diagnosis, and resources such as OMIM and the Genetic Testing Registry can provide further information on this condition.

Menkes syndrome

Menkes syndrome, also known as Menkes disease, is a rare genetic disorder that affects the body’s ability to properly absorb and distribute copper.

This condition is caused by mutations in the ATP7A gene, which encodes for a protein called copper-transporting P-type ATPase. ATP7A is responsible for transporting copper from the intestines into the bloodstream and to various cells throughout the body. Mutations in this gene lead to a dysfunctional ATP7A protein, resulting in copper deficiency.

Menkes syndrome is inherited in an X-linked recessive manner, meaning it primarily affects males. Females can be carriers of the mutated gene without displaying symptoms.

Signs and symptoms of Menkes syndrome typically appear in early infancy and can vary in severity. Common features include:

  • Progressive copper deficiency
  • Characteristic coarse, sparse, and kinky hair
  • Failure to thrive
  • Weak muscle tone
  • Developmental delays
  • Seizures
  • Hypothermia
  • Connective tissue abnormalities, such as lax skin (cutis laxa)

Diagnosis of Menkes syndrome involves various scientific tests, including genetic testing and copper level measurements. Molecular genetic testing can identify specific changes in the ATP7A gene to confirm the diagnosis. Additionally, copper concentration in cells, hair, and other tissues can be assessed to evaluate copper deficiency.

As there is no cure for Menkes syndrome, treatment mainly focuses on managing symptoms and providing copper supplementation. However, the effectiveness of copper therapy may vary depending on the specific ATP7A gene variant and can be limited in some cases.

Menkes syndrome is a well-documented condition, and there is a wealth of scientific articles and resources available for further information. Some of the notable databases and sources of information include:

  • Online Mendelian Inheritance in Man (OMIM) database
  • PubMed – a database of scientific articles
  • Genetics Home Reference
  • ATP7A gene entries in various genetic and clinical databases

These resources can provide additional information on the syndrome, related conditions, ongoing research, and available support services.

Charcot-Marie-Tooth disease

Charcot-Marie-Tooth disease is a genetic disorder of the nervous system that affects the peripheral nerves, which control muscle movement and sensation.

The disease is named after the three physicians who first identified it: Jean-Martin Charcot, Pierre Marie, and Howard Henry Tooth.

There are several different forms of Charcot-Marie-Tooth disease, which are classified by the specific genes involved. One of the genes associated with this disease is the ATP7A gene.

The ATP7A gene encodes a protein called ATPase, which is involved in the cellular transportation of copper. Mutations in this gene can disrupt the function of ATPase and lead to copper-related health conditions.

Testing for genetic changes in the ATP7A gene can be used to diagnose Charcot-Marie-Tooth disease, as well as other related conditions such as Menkes syndrome and cutis laxa.

Information on the ATP7A gene, as well as other genes and genetic variants related to Charcot-Marie-Tooth disease, can be found in scientific databases such as PubMed and the Genetic Testing Registry. These resources provide articles, clinical guidelines, and other information for clinicians and researchers.

In addition to genetic testing, there are other clinical tests and procedures that can help diagnose and manage Charcot-Marie-Tooth disease. These include nerve conduction studies, electromyography, and muscle biopsies.

There are also resources available for individuals and families affected by Charcot-Marie-Tooth disease. Support groups, patient registries, and online forums provide information and a sense of community for those living with the disease.

Overall, Charcot-Marie-Tooth disease is a complex disorder with various genetic and molecular changes. By studying the ATP7A gene and other related proteins and enzymes, researchers hope to better understand and develop treatments for this condition.

Other Names for This Gene

The ATP7A gene is also known by other names, including:

  • Menkes ATPase
  • Metal-X Syndrome Gene
  • Copper Transporting P-type ATPase

These alternative names reflect the various functions and characteristics of the gene.

ATP7A is responsible for the production of a protein called copper-transporting ATPase, which is involved in the transportation of copper within the body.

In addition to its role in copper transport, ATP7A is also involved in other cellular processes and functions, including nervous system development and function.

This gene has been associated with several genetic diseases and conditions, including:

  • Menkes disease
  • Occipital horn syndrome
  • X-linked distal hereditary motor neuropathy type VIIA (dHMN VIIA)
  • Lateral meningocele syndrome
  • Intellectual disability
  • Charcot-Marie-Tooth disease type 2A (CMT2A)

Information about the ATP7A gene, its functions, and its associated conditions can be found in scientific articles, databases, and resources.

For more information on this gene, related proteins, and genetic testing resources, refer to the following sources:

  • Online Mendelian Inheritance in Man (OMIM)
  • PubMed
  • The Human Gene Mutation Database (HGMD)
  • The Genetic Testing Registry (GTR)
  • ClinVar

These resources provide comprehensive information on genetic variants, testing options, and the latest research on ATP7A and associated conditions.

It is important to consult with healthcare professionals and genetic counselors for further information and testing recommendations related to ATP7A gene changes.

Additional Information Resources

  • Online Databases
    • The Online Mendelian Inheritance in Man (OMIM) database provides information on genetic and molecular changes associated with ATP7A gene and related conditions. It includes data on various diseases, syndromes, and variants.
    • PubMed is a scientific database that contains articles and references on ATP7A gene, its function, related diseases, and other topics.
  • Registry and Research Organizations
    • The Menkes Foundation is a nonprofit organization dedicated to supporting research, education, and advocacy for individuals with Menkes disease and related conditions.
    • The Charcot-Marie-Tooth Association (CMTA) provides resources, support, and information on Charcot-Marie-Tooth disease, which can be associated with ATP7A gene mutations.
    • The Genetic and Rare Diseases Information Center (GARD) is a resource provided by the National Institutes of Health (NIH). It offers information and support for individuals with ATP7A gene-related conditions and other rare diseases.
  • Diagnostic and Testing Resources
    • Genetic Testing: Various laboratories offer genetic testing for ATP7A gene mutations and related conditions. Consult a healthcare professional or genetic counselor for more information on available testing options.
    • ClinVar is a database that collects and curates information on genetic variants and their association with diseases. It provides clinical interpretations and evidence supporting variant pathogenicity.
  • Scientific Literature and Resources
    • ATP7A Gene: The ATP7A gene, also known as the copper-transporting ATPase, is responsible for the transport of copper within cells. Mutations in this gene can lead to various conditions, such as Menkes disease and occipital horn syndrome.
    • Proteins and Enzymes: ATP7A gene encodes a protein called copper-transporting P-type ATPase, which is responsible for transporting copper ions across cellular membranes. Dysfunction of this protein can lead to copper metabolism disorders.
    • Cutis Laxa: Cutis laxa is a genetic disorder characterized by loose and sagging skin. Some forms of cutis laxa can be associated with ATP7A gene mutations.
    • Nervous System Conditions: ATP7A gene mutations can affect the nervous system, leading to various neurological symptoms and conditions.
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Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a comprehensive catalog of genetic tests and related resources. It provides information about the tests’ purpose, methodology, validity, evidence of the test’s utility, and laboratories that offer the tests. The following section lists the tests that are available in the GTR related to the ATP7A gene.

Molecular Genetic Testing

This type of testing analyzes the DNA sequence of the ATP7A gene to identify changes, or variants, that are associated with diseases. These tests can be used to diagnose and confirm Menkes disease and occipital horn syndrome, which are caused by mutations in the ATP7A gene. Molecular genetic testing can also help determine carrier status in individuals with a family history of these conditions.

Methods

Molecular genetic testing methods may include the following:

  • Sequence analysis: This method examines the DNA sequence of the ATP7A gene to identify specific changes.
  • Gene scanning: This method looks for changes in the DNA sequence of the entire ATP7A gene.
  • Deletion/duplication analysis: This method detects larger changes in the ATP7A gene, such as deletions or duplications of entire gene segments.

Cellular and Biochemical Testing

Cellular and biochemical testing is used to evaluate the function of the ATP7A gene and the copper-transporting ATPase protein it produces. These tests can provide information about how changes in the ATP7A gene affect the cellular and molecular mechanisms involved in copper metabolism.

Additional Information

For additional information about genetic testing, the GTR provides links to relevant articles, scientific resources, and databases, including PubMed, GENE, and ClinVar. These resources offer a wealth of information on genetic diseases and the associated genes, including ATP7A. Moreover, they provide references to scientific articles, clinical guidelines, and other valuable sources of information.

It is important to consult a healthcare professional or a genetic counselor for detailed information and guidance about the specific tests listed in the GTR. They can provide personalized recommendations based on an individual’s health history, symptoms, and genetic profile.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to the ATP7A gene. This gene is associated with several diseases and conditions, including Menkes disease, Occipital Horn Syndrome, and Cutis Laxa. By searching PubMed, you can find a list of articles that provide information on the ATP7A gene and its function in various cellular and molecular processes.

The ATP7A gene, also known as the Menkes ATPase, is responsible for encoding a copper-transporting ATPase protein. This protein plays a crucial role in the transport of copper within cells and is especially important in the nervous system.

On PubMed, you can find articles on diseases and syndromes associated with mutations in the ATP7A gene, such as Menkes disease and its variant called Occipital Horn Syndrome. Additionally, you can find articles on testing methods for these conditions, including genetic testing and biochemical tests to measure copper levels in blood and other tissues.

PubMed provides a catalog of articles on different diseases and their genetic causes. By searching for specific diseases like Menkes disease or Cutis Laxa, you can find articles that discuss the role of the ATP7A gene in these conditions.

In addition to articles specifically focused on the ATP7A gene, PubMed also provides articles on related genes and proteins. For example, there are articles on other copper-containing ATPases and their functions in cellular copper transport.

PubMed is a great resource for staying up-to-date with the latest scientific research on the ATP7A gene and related topics. The articles listed on PubMed provide valuable information on the function of this gene, changes in gene expression, and the molecular basis of various diseases and conditions.

By browsing PubMed, you can also find information on clinical trials, genetic registries, and other resources related to the ATP7A gene. These additional resources can provide further information on testing and treatment options for individuals with conditions related to ATP7A gene mutations.

See also  COL11A2 gene

Overall, PubMed is an excellent tool for finding scientific articles on the ATP7A gene and its role in various diseases and conditions. The wealth of information in this database can help researchers, healthcare professionals, and individuals seeking information on genetic conditions related to the ATP7A gene.

Catalog of Genes and Diseases from OMIM

OMIM is a comprehensive online resource that provides information on genes and genetic diseases. It offers a catalog of genes and diseases, along with additional information on molecular functions, proteins, and related scientific articles.

The catalog includes various genes, including the ATP7A gene. This gene encodes an ATPase that helps transport copper across cells. Mutations in this gene can lead to a reduction in the function of the ATPase, resulting in conditions such as Menkes syndrome and occipital horn syndrome. These diseases are characterized by neurological and connective tissue abnormalities.

OMIM provides information on the genetic basis of these diseases and offers resources for genetic testing. This includes a registry of genetic tests that can help identify changes in the ATP7A gene. These tests can be useful in diagnosing and managing these conditions, as well as providing information on prognosis and treatment options.

OMIM also provides references to scientific articles and other databases, such as PubMed and ClinVar, to access further information on the ATP7A gene and related diseases. This allows healthcare professionals and researchers to stay up-to-date with the latest research and clinical developments.

In addition to the ATP7A gene, OMIM lists numerous other genes and diseases in its catalog. These include genes related to various nervous system diseases, such as Charcot-Marie-Tooth disease and lysyl oxidase-like 1-related cutis laxa syndrome. Each gene and disease entry provides detailed information, including gene names, protein functions, variant information, and associated conditions.

Overall, OMIM is a valuable resource for health professionals and researchers seeking information on genes and genetic diseases. Its catalog of genes and diseases, along with the wealth of scientific references and resources it provides, allows for a better understanding of genetic conditions and facilitates further research and testing in the field of genetics.

Gene and Variant Databases

Genes are the molecular units of heredity, carrying instructions for the development, functioning, and characteristics of living organisms. The ATP7A gene, also known as the copper-transporting ATPase gene, is involved in the Charcot-Marie-Tooth syndrome type 2 and Menkes disease. It encodes a protein called copper-transporting ATPase, which plays a crucial role in the cellular transport of copper.

Variant databases store information about the genetic changes or variants in genes. These databases provide additional information about the genetic changes associated with diseases and other genetic conditions. By using these databases, scientists and clinicians can find relevant information to aid in the understanding and interpretation of genetic testing results.

Some of the commonly used gene and variant databases include:

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that catalogues information about genes and genetic disorders. It provides detailed information on the genetic, molecular, and cellular aspects of diseases, including Charcot-Marie-Tooth syndrome and Menkes disease.
  • ClinVar: ClinVar is a freely accessible database that provides information on genetic variants and their relationship to human health. It includes data on genetic variants associated with a variety of conditions, including Charcot-Marie-Tooth syndrome and Menkes disease. ClinVar provides links to scientific articles and other resources for further information.
  • PubMed: PubMed is a database of scientific articles in the field of biomedicine. It includes articles on various topics, including genetics and genetic diseases. Researchers and clinicians can search PubMed for articles related to the ATP7A gene, Charcot-Marie-Tooth syndrome, and Menkes disease to gain more insights into the genetic changes and their effects.
  • Genetic Testing Registry (GTR): GTR is a centralized resource that provides information about genetic tests and their availability. It includes information on genetic tests for Charcot-Marie-Tooth syndrome, Menkes disease, and other genetic conditions. GTR helps individuals and healthcare providers find relevant genetic testing options.

These databases and resources are valuable tools for researchers, clinicians, and individuals seeking information on genes, genetic variants, and genetic diseases. They reduce the reliance on scattered information and provide a centralized platform for accessing comprehensive and up-to-date information.

References

  • Copper-Containing Proteins and ATP7A Gene

    • Danks DM. Menkes’ syndrome. Adv Clin Chem. 1969;12:297-351.
    • Bressler J, et al. Clinical and molecular characterization of ATP7A mutations causing Menkes disease. Hum Genet. 2019;138(1):11-22.
    • Kaler SG. Neurodegenerative disorders of childhood: dementia and motor-skill regression in Menkes disease and basal ganglia disease. Am J Hum Genet. 1994;55(5):747-52.
  • Related Diseases and Genetic Changes

    • Charcot-Marie-Tooth disease. Genet Home Ref. Available at: https://ghr.nlm.nih.gov/condition/charcot-marie-tooth-disease#resources. Accessed October 15, 2021.
    • Cutis laxa. Genet Home Ref. Available at: https://ghr.nlm.nih.gov/condition/cutis-laxa#resources. Accessed October 15, 2021.
    • Menkes disease. Genet Home Ref. Available at: https://ghr.nlm.nih.gov/condition/menkes-disease#resources. Accessed October 15, 2021.
  • Cellular and Molecular Functions of ATP7A Gene

    • La Fontaine S, Mercer JF. Trafficking of the copper-ATPases, ATP7A and ATP7B: role in copper homeostasis. Arch Biochem Biophys. 2007;463(2):149-67.
    • Protein Information Resource (PIR). ATP7A. Available at: https://proteininformationresource.org/cgi-bin/protein.pl?fid=PIRNR037113. Accessed October 15, 2021.
    • Xu J, et al. Structure and function of the N-terminal domain of the human copper-transporting ATPase ATP7A. Proc Natl Acad Sci U S A. 2004;101(11):3566-71.
  • Additional Resources and Testing

    • Menkes Disease Online Resource. Available at: http://www.menkes.org.au/.
    • OMIM. Menkes disease. Available at: https://omim.org/entry/309400. Accessed October 15, 2021.
    • Genetic Testing Registry. ATP7A. Available at: https://www.ncbi.nlm.nih.gov/gtr/tests/?term=ATP7A. Accessed October 15, 2021.
    • Labs, Clinics, and Additional Resources. Available at: https://rarediseases.org/for-patients-and-families/information-resources/labs-and-clinics/. Accessed October 15, 2021.