PACS1 gene

The PACS1 gene (Protein Associated with CAKinase Signalosome 1) is a gene that encodes the PACS1 protein. This protein is involved in the regulation of intracellular protein transport and signaling pathways. Mutations in the PACS1 gene have been linked to a rare genetic disorder known as PACS1 syndrome.

PACS1 syndrome is characterized by developmental delay, intellectual disability, and distinctive facial features. Additional symptoms may include feeding difficulties, seizures, and heart defects. This syndrome is caused by changes in the PACS1 gene that result in a nonfunctional or altered form of the PACS1 protein.

Research on the PACS1 gene and its protein has provided valuable insights into the molecular mechanisms underlying various diseases and conditions. The PACS1 gene is listed in various genetic databases and resources, such as OMIM (Online Mendelian Inheritance in Man) and Genetests. The PACS1 gene has also been the subject of numerous scientific articles and research studies, with references available on PubMed.

Genetic testing for mutations in the PACS1 gene is available through commercial laboratories and may be useful in confirming a diagnosis of PACS1 syndrome. This testing can help provide information on the specific genetic changes present in an individual and their potential implications for health and development. In addition to genetic testing, other diagnostic tests and imaging studies may be performed to evaluate the presence of associated conditions and provide appropriate medical management.

Health Conditions Related to Genetic Changes

Genetic changes in the PACS1 gene have been associated with a variety of health conditions. PACS1 gene changes are linked to PACS1 syndrome, a rare genetic disorder characterized by developmental delay, intellectual disability, and various physical features.

To learn more about the health conditions related to genetic changes in the PACS1 gene, you can explore the following resources:

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about the clinical features, inheritance patterns, molecular basis, and management options for various genetic conditions. The OMIM entry for PACS1 gene changes includes references to scientific articles and other resources related to PACS1 syndrome.
  • PubMed: PubMed is a database of scientific articles in the field of medicine and genetics. Searching for “PACS1 gene” on PubMed will yield a list of research articles and reviews that discuss the genetic changes, clinical manifestations, and diagnostic approaches associated with PACS1 syndrome.
  • Genetic Testing: Genetic testing can be used to detect and confirm genetic changes in the PACS1 gene. These tests are typically performed in specialized laboratories and can help in diagnosing PACS1 syndrome and providing appropriate medical management.

By exploring these resources and additional databases, you can gather more information about the specific health conditions and diseases related to the genetic changes in the PACS1 gene. This knowledge can aid in understanding and managing PACS1 syndrome effectively.

PACS1 syndrome

PACS1 syndrome is a rare genetic disorder caused by mutations in the PACS1 gene. The PACS1 gene provides instructions for making a protein called phosphofurin acidic cluster sorting protein 1. This protein plays a role in the sorting and transport of proteins within cells.

Individuals with PACS1 syndrome typically have developmental delay, intellectual disability, and distinctive facial features. They may also have seizures, sleep disturbances, and feeding difficulties. In addition, they typically have low muscle tone (hypotonia) and joint hypermobility.

The diagnosis of PACS1 syndrome is confirmed through genetic testing. This can be done through various genetic testing methods, including targeted gene testing, whole exome sequencing, or other genetic tests. The results of the genetic tests can determine whether an individual has a mutation in the PACS1 gene.

References to scientific articles, databases, and other sources of information on PACS1 syndrome can be found on the catalog of the National Library of Medicine’s Pubmed database. Additional information can also be found on the Online Mendelian Inheritance in Man (OMIM) database, which provides detailed information on genetic conditions and the genes associated with them.

The PACS1 gene is also related to other diseases and conditions. It is listed as one of the genes commonly tested in panels for developmental delay and intellectual disability. Variants in the PACS1 gene have been found in individuals with other genetic syndromes and conditions, including autism spectrum disorder.

Research on PACS1 syndrome and related conditions is ongoing, with new findings and changes in understanding occurring regularly. It is important for individuals and families affected by PACS1 syndrome to stay updated on the latest research and advances in testing and treatment options.

The PACS1 syndrome is included in the GeneTests registry, which provides a directory of genetic testing laboratories and professionals who offer testing for hundreds of genetic conditions. This resource can help individuals and families find healthcare providers and access genetic testing services.

Other Names for This Gene

The PACS1 gene is also known by many additional names, including:

  • Phosphofurin Acidic Cluster Sorting Protein 1
  • Phosphofurin Homolog
  • PACS-1
  • HYST1
  • HSPC372
  • Phosphofurin Acidic Cluster Sorting protein 1

These names may be mentioned in scientific articles, databases, and resources related to genetic testing, health conditions, and research on this gene. It is important to note that these names refer to the same gene, PACS1, and may be used interchangeably in different contexts.

See Also:  ETV6 gene

For more information on the PACS1 gene and related conditions, genetic tests, variant changes, and research, you can refer to the following resources:

  1. Online Mendelian Inheritance in Man (OMIM) database
  2. PubMed scientific articles and research papers
  3. The Genetic Testing Registry (GTR)

These resources provide a wealth of information on the PACS1 gene, associated health conditions, and the latest research findings. They can be valuable references for scientists, healthcare professionals, and individuals interested in learning more about this gene and its role in various diseases and conditions.

Additional Information Resources

  • Proteins: For more information on proteins and their functions, you can visit the NCBI Gene database. It provides detailed information on various genes and proteins, including the PACS1 gene.
  • Diseases and Conditions: To learn more about the diseases and conditions associated with the PACS1 gene, you can refer to the Online Mendelian Inheritance in Man (OMIM) database. It provides comprehensive information on genetic disorders and their associated genes.
  • Genetic Tests: If you are interested in genetic testing for PACS1-related syndromes or other conditions, you can find information on available tests and laboratories on the NCBI Genetic Testing Registry (GTR). It can help you locate labs that offer specific tests and provide details on their testing procedures.
  • Research Articles: To access scientific articles related to PACS1 gene research, you can search the PubMed database. It provides a wide range of scientific articles and research publications on various genetic topics.
  • Variant Catalog: The NCBI ClinVar database provides information on genetic variants and their clinical significance. You can search for PACS1 gene variants and see their associated diseases and conditions.
  • Phosphofurin: For detailed information on the role of phosphofurin in the PACS1 gene and related pathways, you can refer to the Human Protein Atlas. It provides comprehensive information on protein expression and localization in various tissues.
  • Additional References: If you want to explore more references and studies related to the PACS1 gene, you can check the reference sections of the aforementioned resources. They often include a list of key publications that can provide more in-depth information on specific topics.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a comprehensive listing of genetic tests, including tests related to the PACS1 gene. Genetic testing involves analyzing an individual’s DNA for specific changes or variants in genes associated with various health conditions. This resource is a valuable tool for healthcare professionals and individuals seeking information about genetic testing.

The GTR offers a wide range of resources and information related to genetic testing. It includes a catalog of genes, diseases, and conditions, as well as scientific articles, research references, and other relevant information. The GTR also provides access to databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed, which contain additional information about genetic testing, genes, and related scientific research.

For the PACS1 gene, the GTR lists several tests associated with PACS1-related syndrome. These tests are designed to detect specific genetic changes or variants in the PACS1 gene, which plays a critical role in the development and function of proteins involved in various biological processes.

It is important to note that the GTR provides information about available genetic tests, but does not endorse or recommend specific tests or laboratories. Healthcare professionals and individuals should consult with experts in genetic testing to determine the most appropriate tests for their specific needs.

In summary, the Genetic Testing Registry is a valuable resource for accessing information about genetic tests, including those related to the PACS1 gene. It provides a comprehensive listing of tests, resources, and research references, helping healthcare professionals and individuals make informed decisions about genetic testing.

References
Genet Pubmed
Genet. Med. 2016 Sep;18(9):948-51. Am. J. Hum. Genet. 2016 May 5;98(5):1073-87.
Clin. Genet. 2016 Aug;90(2):134-45. Am. J. Hum. Genet. 2016 Feb 4;98(2):451-60.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to the PACS1 gene. This gene is associated with a range of conditions and research on it can provide important information for understanding these conditions.

PubMed is a comprehensive catalog of scientific articles, including those related to genes. It provides a wealth of information on the PACS1 gene and its variants. It is a valuable tool for researchers and healthcare professionals studying this gene and its role in various diseases.

In addition to PubMed, there are other databases and resources that provide information on genetic testing and related conditions. These resources can be used to find additional articles and research on the PACS1 gene.

The Online Mendelian Inheritance in Man (OMIM) database is a useful resource for finding information on genes and diseases. It provides detailed information on the PACS1 gene, including changes in the gene and associated diseases.

There are also genetic testing registries that provide information on available tests for the PACS1 gene. These registries can help healthcare professionals and individuals find testing options for this gene.

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Proteins produced by the PACS1 gene, such as phosphofurin acidic cluster sorting protein 1, play important roles in various cellular processes. Understanding the functions of these proteins can provide valuable insights into the mechanisms of diseases associated with the PACS1 gene.

Scientific articles on PubMed provide a wealth of information on the PACS1 gene and related conditions. They can help researchers and healthcare professionals stay up-to-date with the latest research and advancements in this field.

References:

  1. PACS1 gene – PubMed
  2. Genetic Testing Registry – PACS1 gene
  3. OMIM – PACS1 gene

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic conditions. It provides valuable information for researchers, medical professionals, and individuals interested in genetic diseases. This catalog includes the PACS1 gene, along with many other genes and their associated diseases.

The PACS1 gene is listed in the OMIM catalog as it is related to a specific condition known as PACS1 syndrome. This syndrome is a rare genetic disorder characterized by intellectual disability, developmental delay, facial dysmorphism, and other symptoms.

OMIM provides additional resources for the PACS1 gene, such as scientific articles, research papers, and databases. These resources can be used to further understand the role of the gene in the development of PACS1 syndrome and related conditions.

One of the databases listed in OMIM for the PACS1 gene is PubMed. PubMed is a database of scientific articles and publications related to biomedical research. It can be useful for finding research articles and studies on the PACS1 gene and associated conditions.

In addition to PACS1, OMIM also lists other genes and their associated diseases. This comprehensive catalog serves as a valuable reference for researchers and medical professionals in the field of genetics.

OMIM also provides information on genetic testing for PACS1 syndrome and related conditions. This includes details on available tests, laboratories offering testing services, and the clinical features that may indicate the need for testing.

References from scientific articles and other resources are cited in OMIM, providing a credible source of information for researchers and medical professionals. These references can be used to explore further literature on the PACS1 gene and related conditions.

Overall, OMIM serves as a valuable registry of genes and genetic conditions, including the PACS1 gene and PACS1 syndrome. It provides a wealth of information, research resources, and testing options for individuals interested in these conditions.

Gene and Variant Databases

Scientific research on genes and genetic variants has led to the development of various databases that provide important information about these genetic factors. These databases play a crucial role in understanding the genetic basis of diseases and syndromes, including the PACS1 gene.

One of the main databases used in genetic research is GeneTests. GeneTests provides a comprehensive catalog of genetic tests for various conditions and diseases. It includes information on the PACS1 gene and its related tests, as well as references to articles and research papers.

Another widely used database is the Online Mendelian Inheritance in Man (OMIM). OMIM provides information on genes, genetic conditions, and genetic variants associated with diseases. It includes detailed descriptions of the PACS1 gene and its associated conditions, such as the PACS1 syndrome.

PhosphoSitePlus is a database that focuses on post-translational modifications of proteins. It provides information on protein sequences, phosphorylation sites, and other protein modifications. The database includes information on the PACS1 gene and its related proteins.

In addition to these databases, there are other resources available for genetic research and testing. These resources can be used to obtain additional information on the PACS1 gene and its variants. Some of these resources include PubMed, which provides access to scientific articles and research papers, and the Genetic Testing Registry, which lists genetic tests available for the PACS1 gene.

In conclusion, gene and variant databases are valuable resources for researchers and healthcare professionals working in the field of genetics. These databases provide essential information on genes, genetic variants, and associated conditions. They play a crucial role in advancing our understanding of genetic factors and their impact on human health.

References

  • Information on the PACS1 gene, genetic changes, and related conditions can be found in the following resources:

    • Online Mendelian Inheritance in Man (OMIM) – a comprehensive database that provides information on genetic disorders and associated genes.

    • PubMed – a database of scientific articles and research papers, which can be searched for publications related to the PACS1 gene and associated diseases.

    • GeneTests – a registry of genetic testing laboratories and resources, including information on available tests for the PACS1 gene.

    • Phosphofurin Acidic Cluster Sorting Protein 1 (PACS1) – a protein involved in the sorting and trafficking of proteins within cells.

    • Catalog of Genes and Diseases (CGD) – a comprehensive database that provides information on genes and associated diseases.

  • Additional references and articles related to the PACS1 gene and syndrome can be found in scientific journals and publications.

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