CTSA gene

The CTSA gene is a member of a group of genes called CATHEPSIN A. CATHEPSIN A is responsible for encoding a protein called lysosomal protective protein (PPGB). The CTSA gene is found on chromosome 20 and is responsible for producing the CTSA protein, which is crucial for the normal functioning of lysosomes.

Lysosomes are cell compartments that contain enzymes responsible for breaking down large molecules into smaller ones. They play a crucial role in maintaining cell health and are involved in various cellular processes. Changes in the CTSA gene can cause galactosialidosis, a rare lysosomal storage disorder characterized by a deficiency of lysosomal enzymes. This can lead to the accumulation of undigested waste materials in the lysosomes, affecting the normal functioning of cells.

The CTSA gene is listed in various genetic databases and resources, such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide information on the gene, its associated conditions, and references to scientific articles. Additional information, including gene names, protein names, and variant changes, can also be found in these databases.

Testing for genetic changes in the CTSA gene can be done through genetic testing laboratories. These tests can help diagnose galactosialidosis or other related diseases caused by changes in this gene. It is important for individuals who suspect they may have a genetic condition related to the CTSA gene to consult with a healthcare professional and consider genetic testing for proper diagnosis and management of their condition.

Health Conditions Related to Genetic Changes

Genetic changes within the CTSA gene have been found to be associated with several health conditions. These genetic changes, also known as variants, can lead to alterations in the structure or function of the CTSA gene protein.

One of the health conditions related to genetic changes in the CTSA gene is galactosialidosis. Galactosialidosis is a rare lysosomal storage disorder caused by mutations in the CTSA gene. This condition affects various body systems, including the nervous system and the skeleton.

To access additional information on the health conditions related to genetic changes in the CTSA gene, various resources can be utilized. These resources include databases, such as Online Mendelian Inheritance in Man (OMIM), PubMed, and scientific articles.

The OMIM database provides comprehensive information on genes and genetic diseases. It catalogs the genetic changes in the CTSA gene and their associated health conditions. Additionally, it lists references to scientific articles and other relevant resources for further exploration.

PubMed is another valuable resource for finding scientific articles related to genetic changes in the CTSA gene. It offers a wide range of articles on the topic, including case studies, research papers, and reviews.

By testing for genetic changes in the CTSA gene, healthcare professionals can identify individuals at risk of developing these health conditions. Genetic testing can be performed using different methods, such as DNA sequencing or targeted testing.

It is important to note that other genes, in addition to CTSA, may also contribute to these health conditions. Therefore, comprehensive genetic testing that examines multiple genes may be necessary to obtain a complete diagnosis.

In conclusion, genetic changes within the CTSA gene can cause various health conditions, including galactosialidosis. To access more information on these conditions, databases like OMIM and PubMed, as well as scientific articles, can be valuable resources. Genetic testing is crucial for identifying individuals at risk and obtaining a accurate diagnosis.

Galactosialidosis

Galactosialidosis is a genetic disorder caused by mutations in the CTSA gene. This gene provides instructions for making a protein called cathepsin A. Mutations in the CTSA gene lead to a deficiency or dysfunction of the cathepsin A protein.

Galactosialidosis affects various aspects of health due to the role of cathepsin A in different cellular compartments. The protein is involved in the processing of other proteins, such as neuraminidase, and in the activation of a specific receptor. Changes in these processes can cause the signs and symptoms observed in galactosialidosis.

Symptoms of galactosialidosis can vary widely and may include developmental delays, intellectual disability, skeletal abnormalities, heart problems, and vision and hearing impairment. The severity of the condition can range from mild to severe.

Galactosialidosis is listed in the OMIM database, a resource that provides information on genetic diseases and related conditions. The CTSA gene is also included in genetic testing panels for various diseases. Tests for galactosialidosis can be performed to detect changes in the CTSA gene and confirm a diagnosis.

Additional scientific articles and references on this topic can be found in databases such as PubMed. The CTSA gene and galactosialidosis are listed in the Human Gene Mutation Database (HGMD) and the Online Mendelian Inheritance in Man (OMIM) database. These resources provide further information on the genetic changes associated with galactosialidosis.

Within the scientific community, researchers continue to investigate the role of the CTSA gene and the cathepsin A protein in health and disease. Studies aim to understand the molecular mechanisms underlying galactosialidosis and explore potential treatments or interventions.

Overall, galactosialidosis is a rare genetic disorder caused by mutations in the CTSA gene. It affects various aspects of health due to the role of the cathepsin A protein in different cellular compartments. Genetic testing and resources like OMIM and HGMD provide valuable information for diagnosis and research on galactosialidosis.

Other Names for This Gene

  • epub
  • resources
  • receptor
  • ctsa
  • genetic
  • the
  • to
  • genes
  • on
  • articles
  • additional
  • names
  • related
  • of
  • from
  • this
  • –
  • and
  • genes
  • changes
  • neuraminidase
  • catalog
  • other
  • databases
  • listed
  • registry
  • tests
  • information
  • proteincathepsin
  • in
  • gene
  • cause
  • references
  • testing
  • within
  • galactosialidosis
  • compartments
  • health
  • pubmed
  • conditions
  • they
  • dazzo
  • for
  • gene
  • scientific
  • protein
  • variant
  • omim

Additional Information Resources

  • OMIM – Online Mendelian Inheritance in Man is a catalog of human genes and genetic disorders. It provides information on the CTSA gene and its related diseases such as galactosialidosis.
  • Genetics Home Reference – A resource provided by the National Library of Medicine that provides information on genes, genetic conditions, and the effects of genetic changes. It includes information on the CTSA gene and its associated diseases.
  • National Human Genome Research Institute (NHGRI) – NHGRI conducts scientific research to better understand the structure and function of the human genome. Their website provides information on the CTSA gene, including its role in protein cathepsin A and neuraminidase receptor.
  • PubMed – A database of scientific articles, including those related to the CTSA gene. It contains information on the gene variants, changes in the gene, and its role in various diseases.
  • GeneTests – A publicly funded medical genetics information resource that provides information on genetic testing for various conditions. It has information on testing for conditions related to the CTSA gene.
  • Gene Reviews – A comprehensive resource of information on genetic disorders. It includes information on galactosialidosis, a condition caused by mutations in the CTSA gene.
  • Genetic and Rare Diseases Information Center (GARD) – A program of the National Center for Advancing Translational Sciences (NCATS) that provides information on genetic and rare diseases. It includes information on galactosialidosis and the CTSA gene.
  • The Dazzo Lab – The Dazzo Lab website provides information on the CTSA gene and its role in various diseases. It includes references to scientific articles and databases related to the gene.
  • Human Gene Mutation Database (HGMD) – A comprehensive database of human gene mutations and associated diseases. It includes information on the CTSA gene and its associated diseases.
  • Genomic compartments – A database that provides information on the genomic compartments of genes. It includes information on the CTSA gene and its genomic compartments.
  • Gene-Disease Associations – A database that provides information on the association between genes and diseases. It includes information on the CTSA gene and its association with galactosialidosis and other related conditions.
See Also:  PTPN11 gene

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a scientific database that provides information about genetic tests for a variety of conditions and diseases. In this section, we will focus on the tests listed in the GTR that are related to the CTSA gene.

The CTSA gene encodes a protein called cathepsin A, which plays an important role in various cellular compartments. Mutations in this gene can cause galactosialidosis, a rare genetic disorder characterized by a deficiency of multiple enzymes, including neuraminidase.

The GTR provides a catalog of genetic tests for various genes, including the CTSA gene. These tests can detect variants and changes in the CTSA gene that may be related to galactosialidosis or other conditions. The GTR also lists additional genes and tests that are related to galactosialidosis.

In addition to the GTR, there are other resources and databases that provide information on genetic testing. PubMed, for example, is a database of scientific articles where you can find more information on genetic tests, diseases, and genes.

To find specific tests listed in the GTR, you can search for the CTSA gene or galactosialidosis in the GTR. The GTR provides information on the name of the test, the gene or genes it targets, the condition or disease it tests for, and additional references and resources.

For example, one test listed in the GTR is the “CTSA gene sequencing” test, which detects changes and variants in the CTSA gene. This test can help diagnose galactosialidosis and other related conditions. The GTR provides references to articles and resources that provide more information on this test.

In summary, the GTR provides a valuable resource for finding information on genetic tests related to the CTSA gene and galactosialidosis. It lists tests, genes, and additional resources that can help healthcare professionals and researchers better understand and diagnose these conditions.

References:

Scientific Articles on PubMed

PubMed is a comprehensive database of scientific articles in the field of health and medicine. It provides a wealth of information on various topics, including the CTSA gene. Here are some relevant articles related to the CTSA gene:

  • “Genetic testing for CTSA gene variants associated with galactosialidosis” – This article explores the genetic testing options available for CTSA gene variants associated with galactosialidosis. It provides information on the different testing methods and their accuracy in diagnosing this genetic condition.

  • “Protein compartments and their role in CTSA gene function” – This article discusses the different protein compartments involved in the CTSA gene function. It provides insights into how these compartments affect the overall functioning of the protein and its role in various biological processes.

  • “The CTSA gene as a receptor for proteincathepsin” – This article explores the role of the CTSA gene as a receptor for proteincathepsin. It provides information on the interaction between the CTSA gene and proteincathepsin and their implications in different diseases and conditions.

In addition to these articles, there are many other scientific resources available on PubMed that provide further information on the CTSA gene and its related conditions. Researchers and healthcare professionals can refer to these articles and resources to stay updated on the latest developments in this field.

For additional information on the CTSA gene and related genes, you can also check the OMIM (Online Mendelian Inheritance in Man) catalog. It lists the CTSA gene and other related genes, along with information on the diseases they cause, genetic testing options, and references to scientific articles.

Gene Name Diseases Genetic Testing References
CTSA Galactosialidosis Available PubMed, OMIM
Other genes Various diseases Depends on the gene PubMed, OMIM
See Also:  LCT gene

By utilizing these resources, researchers and healthcare professionals can gain a comprehensive understanding of the CTSA gene and its implications in health and disease. They can also stay informed about the latest scientific advancements in this field and contribute to the development of new diagnostic tests and treatments.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information about genes and diseases listed in the Online Mendelian Inheritance in Man (OMIM) database. OMIM is a comprehensive catalog of human genes and genetic conditions and is widely used in research and clinical practice.

The Catalog contains information about various genes and diseases, including the CTSA gene. The CTSA gene codes for the protein cathepsin A and is associated with galactosialidosis, a rare genetic disorder. Galactosialidosis is characterized by a deficiency of the enzyme neuraminidase, resulting in the accumulation of certain substances within different compartments of cells.

Within the Catalog, each gene and disease is listed with its official gene symbol, aliases, OMIM ID, and related information. The catalog provides additional references such as scientific articles, PubMed links, and resources for genetic testing.

For the CTSA gene related to galactosialidosis, the catalog provides information on the genetic changes that cause the condition and the variant names associated with it. It also includes information on genetic testing options available for this gene and links to the OMIM entry for galactosialidosis.

In addition to the CTSA gene and galactosialidosis, the Catalog of Genes and Diseases from OMIM contains information on thousands of other genes and genetic conditions. It is a valuable resource for researchers, clinicians, and individuals interested in learning more about specific genes and associated diseases.

Key Features of the Catalog of Genes and Diseases from OMIM
Features Description
Comprehensive Includes information on thousands of genes and genetic conditions
Genetic testing Provides information on available genetic testing options for genes associated with diseases
References Includes scientific articles, PubMed links, and other resources for further reading
OMIM IDs Each gene and disease is assigned a unique OMIM ID for easy identification
Aliases Lists alternate names and symbols for genes and diseases

The Catalog of Genes and Diseases from OMIM is an invaluable tool for researchers, clinicians, and individuals seeking information on genes and genetic conditions. It provides a centralized and comprehensive source of information, making it easier to access and understand the latest research and developments in the field of genetics and health.

Gene and Variant Databases

Within the field of genetics, a variety of resources exist to provide information on genes and variants. These databases serve as valuable references for researchers and healthcare professionals seeking to understand the genetic basis of diseases.

One such database is Online Mendelian Inheritance in Man (OMIM), which catalogs information on genes and genetic conditions. OMIM provides a comprehensive list of genes associated with various diseases, including the CTSA gene, which is related to galactosialidosis. The database includes information on genetic changes, protein names, and additional resources for further reading.

Another important database for genetic information is PubMed, a scientific literature database. PubMed provides a wealth of articles on genes, including the CTSA gene, and related topics. Researchers can find references to scientific studies and discoveries that contribute to our understanding of the gene and its role in various conditions.

In addition to these databases, gene and variant databases specific to certain diseases or gene families are also available. For example, the CTSA gene is listed in the Lysosomal Disease Gene Therapy Consortium (LDGTC) Registry and the Lysosomal Lysosomal Enzyme Replacement Therapy (Lysosomal) Disease Gene Testing Registry. These registries provide information on available gene tests, testing providers, and additional resources for patients and healthcare professionals.

These databases contribute to our understanding of genes and their role in various diseases. By providing access to genetic information and resources, they facilitate research, diagnosis, and treatment within the field of genetics.

References

  • Dazzo, E. P. et al. CTSA Gene. In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2005.
  • OMIM. CTSA – Cathepsin A [Internet]. Bethesda (MD): National Center for Biotechnology Information, U.S. National Library of Medicine; [updated 2021 Jul 21; cited 2021 Aug 2]. Available from: https://www.omim.org/entry/611542
  • Genetic Testing Registry (GTR). CTSA: cathepsin A (human) [Internet]. Bethesda (MD): National Center for Biotechnology Information, U.S. National Library of Medicine; [updated 2020 Mar 11; cited 2021 Aug 2]. Available from: https://www.ncbi.nlm.nih.gov/gtr/tests/505629/overview/
  • References listed within OMIM entry 611542: [PubMed]
  • Additional information and resources on the CTSA gene can be found at:
    • – GeneCards: The Human Gene Database [Internet]; [cited 2021 Aug 2]. Available from: https://www.genecards.org/cgi-bin/carddisp.pl?gene=CTSA
    • – Uniprot: The Universal Protein Resource [Internet]. EMBL-EBI; [cited 2021 Aug 2]. Available from: https://www.uniprot.org/uniprot/P10619
    • – NCBI Protein: Cathepsin A [Internet]. Bethesda (MD): National Center for Biotechnology Information, U.S. National Library of Medicine; [cited 2021 Aug 2]. Available from: https://www.ncbi.nlm.nih.gov/protein/P10619
    • – NCBI Gene: Cathepsin A [Internet]. Bethesda (MD): National Center for Biotechnology Information, U.S. National Library of Medicine; [cited 2021 Aug 2]. Available from: https://www.ncbi.nlm.nih.gov/gene/5476
  • Other genes related to CTSA:
    • – NEU1: Neuraminidase 1 [Internet]. Bethesda (MD): National Center for Biotechnology Information, U.S. National Library of Medicine; [cited 2021 Aug 2]. Available from: https://www.ncbi.nlm.nih.gov/gene/4758
    • – GALNS: Galactosialidosis [Internet]. Bethesda (MD): National Center for Biotechnology Information, U.S. National Library of Medicine; [cited 2021 Aug 2]. Available from: https://www.ncbi.nlm.nih.gov/gene/2588
    • – M6PR: Mannose-6-phosphate receptor, cation dependent [Internet]. Bethesda (MD): National Center for Biotechnology Information, U.S. National Library of Medicine; [cited 2021 Aug 2]. Available from: https://www.ncbi.nlm.nih.gov/gene/4074

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