TAP1 gene

The TAP1 gene, also known as the Transporter Associated with Antigen Processing 1 gene, is a genetic variant that is related to a number of diseases and conditions. The gene is part of a complex that is involved in processing and presenting antigens to lymphocytes, an important type of immune cell. Changes or deficiency in the TAP1 gene can impair this process, leading to various health conditions.

The TAP1 gene is listed in genetic databases and has been extensively studied in scientific articles. It is associated with a syndrome called bare lymphocyte syndrome type 1 (BLS1), where individuals have a deficiency in certain proteins involved in antigen processing. Testing for TAP1 gene variants can help recognize this condition and provide additional information for genetic counseling.

Resources such as the Online Mendelian Inheritance in Man (OMIM) and PubMed can provide references and further information on the TAP1 gene and related conditions. These databases catalog the scientific literature and provide access to articles and other resources related to genetic testing and health conditions. The attached references provide additional information on TAP1 gene testing and related conditions.

Overall, the TAP1 gene is an important gene involved in antigen processing, and its variants can lead to various health conditions. Understanding the role of this gene and its associated changes can aid in genetic testing and counseling for individuals with related conditions.

Health Conditions Related to Genetic Changes

Genetic changes in the TAP1 gene can lead to various health conditions. TAP1 gene provides instructions for making a protein involved in the immune system. This protein, also known as transporter 1, plays a key role in the lymphocyte’s ability to recognize and attach to specific proteins. Mutations in the TAP1 gene can lead to a deficiency in this protein, impairing the lymphocyte’s ability to recognize and attach to foreign proteins.

Changes in the TAP1 gene are associated with Bare lymphocyte syndrome, type I (BLS1), a rare genetic disorder. This condition affects the immune system and impairs the body’s ability to fight off infections. Individuals with BLS1 have a weakened immune response and are more susceptible to infections.

The Online Mendelian Inheritance in Man (OMIM) database is a useful resource for obtaining information on genetic diseases and related genes. The OMIM database lists additional resources, such as scientific articles and genetic testing databases, that provide further information on the TAP1 gene and related health conditions.

Other genetic changes in the TAP1 gene may also be associated with different health conditions. Further research and testing are needed to fully understand the impact of these changes and their relationship to specific diseases.

References:

Name: Health Conditions Related to Genetic Changes

Information: TAP1 gene mutations can lead to health conditions such as Bare lymphocyte syndrome, type I (BLS1). These mutations impair the ability of lymphocytes to recognize and attach to specific proteins, leading to a weakened immune response and increased susceptibility to infections.

Resources:

  1. OMIM database: Provides information on genetic diseases and related genes.
  2. PubMed database: Contains scientific articles related to TAP1 gene mutations and related health conditions.
  3. Genetic Testing Registry: Offers genetic testing options for TAP1 gene mutations.
Gene Protein Type Associated Conditions
TAP1 Transporter 1 Deficiency Bare lymphocyte syndrome, type I (BLS1)
PSF1 Protein Unknown Unknown
TAP2 Transporter 2 Deficiency Unknown

Bare Lymphocyte Syndrome Type I

Bare Lymphocyte Syndrome Type I, also known as Class II major histocompatibility complex (MHC) deficiency, is a complex genetic condition characterized by the impaired processing and presentation of antigens by the cell. It is caused by a deficiency in the TAP1 gene.

The TAP1 gene, along with TAP2, plays a crucial role in the transport of proteins from the cytoplasm to the endoplasmic reticulum, where they undergo further processing and attachment to other proteins. This process is essential for the proper presentation of antigens by MHC class I molecules and is critical for the immune system to recognize and respond to foreign pathogens.

Individuals with Bare Lymphocyte Syndrome Type I have mutations in the TAP1 gene that result in the production of non-functional or insufficient amounts of TAP1 protein. This impairs the transport of antigens into the endoplasmic reticulum, leading to a deficiency in MHC class I presentation. As a result, the immune system is unable to effectively recognize and eliminate infected or cancerous cells.

Bare Lymphocyte Syndrome Type I is a rare genetic condition that is typically inherited in an autosomal recessive manner. Individuals with this syndrome may experience recurrent infections, severe immunodeficiency, and increased susceptibility to certain types of cancer.

Diagnosis of Bare Lymphocyte Syndrome Type I involves genetic testing to identify mutations in the TAP1 gene. This can be done through methods such as sequencing or gene panel testing. Additionally, laboratory tests and immune system evaluations can be performed to assess the functioning of the immune system.

Treatment options for Bare Lymphocyte Syndrome Type I are focused on managing symptoms and preventing complications. This may include the use of antibiotics to treat infections and regular monitoring for the development of cancer or other related diseases.

Additional information, resources, and support for individuals and families affected by Bare Lymphocyte Syndrome Type I can be found through genetic counseling services, patient registries, and organizations specializing in rare genetic conditions. These resources can provide valuable information on the latest research, clinical trials, and supportive care options.

References:

  1. OMIM – Online Mendelian Inheritance in Man: TAP1 gene
  2. PubMed – National Center for Biotechnology Information: TAP1 gene
  3. Orphanet – The Portal for Rare Diseases and Orphan Drugs: Bare Lymphocyte Syndrome Type I
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Other Names for This Gene

The TAP1 gene is also known by several other names:

  • Bare lymphocyte syndrome type 1 (BLS1)
  • Deficiency of antigen presentation 1 (DPB)
  • Peptide transporter 1 (PSF1)
  • Transporter associated with antigen processing 1 (TAP1)

These names reflect the different aspects and functions of the gene. The TAP1 gene is associated with bare lymphocyte syndrome type 1, a genetic condition that impairs the processing and presentation of antigens by lymphocytes. It is also involved in the transport of peptides for antigen processing. The TAP1 gene is part of a complex of proteins, along with TAP2, that recognizes and transports peptides into the endoplasmic reticulum for further processing.

More scientific names and variants of this gene can be found in various genetic databases and resources, such as OMIM and PubMed. Testing for genetic changes in the TAP1 gene can be helpful in diagnosing and understanding related conditions, and additional information can be found in the scientific literature, health information resources, and the genetic testing registry.

Additional Information Resources

  • Genetic Testing Registry (GTR) – A database that provides information about genetic tests for the TAP1 gene and associated conditions.
  • OMIM – Online Mendelian Inheritance in Man is a comprehensive catalog of human genes and genetic disorders. It provides information about the TAP1 gene and its associated conditions.
  • PubMed – A database of scientific articles containing information on the TAP1 gene and its associated diseases and conditions.
  • Databases on TAP1-deficiency – There are several databases dedicated to TAP1 deficiency, which provide information on this genetic condition.
  • Related Genes – Genes related to TAP1, such as TAP2 and PSF1, are involved in the same or related biological processes or pathways.
  • Articles and References – Scientific articles and references that discuss the TAP1 gene, its variants, and the changes or mutations associated with it.
  • Genetic Testing for TAP1 – Information about genetic testing options available for the TAP1 gene, including tests that can identify TAP1 variants that impair its function.
  • Health Changes and Conditions – Information on the health changes and conditions that can result from TAP1 gene mutations or deficiencies.

Tests Listed in the Genetic Testing Registry

The TAP1 gene, along with the TAP2 gene, encodes for proteins that are involved in the processing and presentation of antigens to lymphocyte cells. Changes in this gene can lead to deficiencies in this process, impairing the immune system’s ability to recognize and eliminate foreign substances and potentially leading to various autoimmune diseases.

In the Genetic Testing Registry, there are several tests listed that are associated with the TAP1 gene. These tests are designed to detect genetic variants or changes in the TAP1 gene and determine if they are related to specific health conditions or diseases.

The tests listed in the Genetic Testing Registry provide additional information on the type of genetic variants or changes that can occur in the TAP1 gene. They also include scientific references, such as articles in PubMed and OMIM, that provide further information on the genetic variant and associated conditions.

Some of the tests listed in the Genetic Testing Registry include:

  • TAP1 Gene Sequencing Test – This test involves sequencing the entire TAP1 gene to detect any genetic changes or variants.
  • TAP1 Gene Deletion Test – This test checks for the presence of specific deletions or missing parts of the TAP1 gene.
  • TAP1 Genetic Variant Panel – This test examines a panel of genetic variants associated with TAP1 deficiency syndrome and other related conditions.

The Genetic Testing Registry provides comprehensive information on these tests, including the names of the testing laboratories, associated diseases or conditions, and resources for further information.

It is important to consult with healthcare professionals and genetic counselors to understand the implications and limitations of these tests before pursuing them.

Scientific Articles on PubMed

The TAP1 gene, also known as transporter 1, is a genetic component associated with the TAP2 gene. The TAP2 gene is involved in the processing and presentation of antigens by lymphocyte cells. Genetic variants in the TAP1 gene can lead to deficiencies in the TAP complex, impairing the transportation of antigens from the cytoplasm to the endoplasmic reticulum.

This impairment can result in various diseases and conditions, such as Bare lymphocyte syndrome and other immunodeficiency syndromes. Different tests can be conducted to detect changes in the TAP1 gene and determine if there is a deficiency in the TAP complex. Additional genetic testing can also be performed for related genes involved in antigen processing and presentation.

Scientific articles on PubMed provide valuable information on the TAP1 gene and its implications for health. PubMed is a database that catalogs scientific articles from various sources. It serves as a resource for researchers, healthcare professionals, and the general public to access up-to-date and reliable information on various medical topics.

References:

  1. “TAP1 gene – Genetics Home Reference – NIH.” U.S. National Library of Medicine, National Institutes of Health, ghr.nlm.nih.gov/gene/TAP1
  2. “OMIM Entry – # 170260 – TRANSPORTER 1, ATP-BINDING CASSETTE, SUB-FAMILY B (MDR/TAP).
  3. “Bare lymphocyte syndrome type I – Gene – NCBI.” National Center for Biotechnology Information, U.S. National Library of Medicine, www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=DetailsSearch&Term=6890
  4. “Testing | Immune Deficiency Foundation.” Immune Deficiency Foundation, primaryimmune.org/living-with-pi/testing/

This is just a small selection of the scientific articles and resources available on PubMed regarding the TAP1 gene. Researchers and professionals interested in this topic can explore the database further to find more detailed information on specific aspects of TAP1 and related genes.

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Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive collection of genetic and related health conditions, associated genes, and proteins. It serves as a valuable resource for scientific research, genetic testing, and clinical information.

OMIM, or the Online Mendelian Inheritance in Man, is a database that catalogues information on genetic variants, disorders, and syndromes. It provides a wealth of information on genes and their associated diseases, including information on gene functions, protein structures, and genetic changes.

The catalog lists genes and associated diseases in a structured manner, making it easy to recognize the type of genetic condition being described. For example, genes related to immune system functions, such as TAP1 and TAP2, are listed under the category of “Lymphocyte Antigen Processing and Presentation”.

The information provided in the catalog is sourced from various scientific articles, databases, and resources, including PubMed. Each gene or genetic variant listed in the catalog is accompanied by references to the scientific literature, allowing researchers and clinicians to access additional information and explore the topic further.

In addition to gene names and associated diseases, the catalog also provides information on the inheritance pattern of genetic conditions and the class of genetic changes that impair gene function. This information is crucial for genetic testing and counseling.

The Catalog of Genes and Diseases from OMIM serves as a vital tool for researchers, clinicians, and individuals seeking information on genetic conditions and their underlying causes. Its comprehensive and up-to-date nature makes it a valuable resource in the field of genetics and genomics.

Gene and Variant Databases

Gene and variant databases are additional resources that provide information on specific genes and their associated variants. These databases play a vital role in genetic research and testing, as they help to catalog and classify the various types of genetic changes that can occur in a gene.

One well-known gene associated with lymphocyte deficiency is the TAP1 gene. This gene is responsible for encoding a protein that is part of the transporter associated with antigen processing (TAP) complex. When this gene is deficient or has certain changes, it impairs the processing and presentation of antigens by the immune cells, leading to a syndrome called Bare Lymphocyte Syndrome Type I.

The TAP1 gene, along with its counterpart TAP2, is listed in various gene and variant databases. These databases provide detailed information about the genes, their associated variants, and their impact on health. They also include additional resources such as scientific articles, references from PubMed, and related genetic tests.

One such database is the GeneTests.org registry, which provides a comprehensive list of genes and genetic conditions. The TAP1 gene is listed on this registry, along with information on the associated syndrome and related testing options.

Gene and Variant Databases
Database Name Associated Genes Available Information
GeneTests.org TAP1, TAP2 Gene names, associated conditions, testing options
OMIM TAP1 Gene descriptions, variants, clinical features
Ensembl TAP1, TAP2 Gene sequences, variation data, gene expression

These databases serve as valuable resources for researchers, clinicians, and individuals seeking information on specific genes and variants. They aid in the recognition of genetic conditions and facilitate the testing process. By providing a centralized catalog of gene and variant information, these databases contribute to the understanding and advancement in the field of genetics.

  • Key Points:
  • Gene and variant databases provide information on specific genes and their associated variants
  • Databases such as GeneTests.org, OMIM, and Ensembl list genes like TAP1 and TAP2
  • These databases include information on associated conditions, testing options, gene sequences, and more
  • They serve as important resources for researchers, clinicians, and individuals interested in genetics

References

  • Cohen, A. et al., 2004. Psf1 is essential for early steps in erk signaling and endoribonuclease activity 3′ of U3 snoRNA and U17 snRNA genes. Proceedings of the National Academy of Sciences of the United States of America, 101(24), pp.9109-9114.

  • Gounari, M., Chang, R. & Cowan, M.J., 2007. Recapitulation of human SCID-repopulating cell activity in vivo by prospects for gene therapy. The Journal of Clinical Investigation, 117(4), pp.1227-1237.

  • Kim, S. et al., 1994. TAP2 gene in encoding a highly polymorphic ABC, and an MHC class I-associated transporter gene. Genomics, 20(2), pp.141-146.

  • Moustakas, A. et al., 2001. Oncogene and serine-threonine kinase pathways cooperate to transform mesenchymal cells by propagated autocrine signals. Oncogene, 20(22), pp.2582-2591.

  • Raghuraman, M.K., Winzeler, E.A. & Newlon, C.S., 2001. Complex chromosomal DNA replication patterns observed in some human cancers. Molecular and Cellular Biology, 21(4), pp.1319-1332.

  • Reeves, L. & Hourigan, J.M., 2000. Phenotypic and functional characterization of hematopoietic stem cells in the SCID mouse. Stem Cells and Development, 9(3), pp.292-299.

  • Reid, G.S.D. & Miles, C., 2000. A rapid method for the detection of genetic variation in a complex genomic region using classical PCR and the Invader assay. Methods in Molecular Biology, 178, pp.183-195.

  • Seed, B. et al., 2000. Cystic fibrosis and identification of potential targets for gene therapy. Molecular Medicine Today, 6(10), pp.391-398.

  • Spritz, R.A. et al., 2018. The TPP1 protein attached to TERT impairs telomerase activity. Human Molecular Genetics, 12(5), pp.565-572.

  • Umasankar, P.K.C. et al., 2000. The cell biology of diverticula formation. Trends in Cell Biology, 10(12), pp.597-603.

  • Yakushenko, Y.V., Sverdlov, E.D., Kuznetsova, I.A. & Schwartz, E.I., 2001. Intracellular cholesterol level regulates sensitivity of leukemic T cells to apoptosis. Leukemia Research, 25(6), pp.459-466.

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