TAF1 gene

The TAF1 gene, also known as TAF1Dyt3, is a critical gene involved in transcription. It is located in a region near other genes related to dystonia-parkinsonism and is listed in various genetic databases and resources. This gene has been associated with a variant known as TAF1Dyt3, which is linked to a free-diseases condition. The TAF1 gene has also been studied in relation to other protein-associated conditions.

Research on the TAF1 gene and its variants has led to the discovery of additional genes and information related to dystonia-parkinsonism and other genetic conditions. The TAF1 gene has been extensively studied and cited in scientific articles, with numerous articles available on PubMed and other citation databases.

Testing for TAF1 variants and related genes is available through genetic testing laboratories and health testing services. The TAF1 gene is a crucial component of the transcription process and understanding its role in various diseases and conditions can provide valuable insights into their mechanisms and potential treatments.

The TAF1 gene, also known as TAF1Dyt3, is a critical gene involved in transcription. It is located in a region near other genes related to dystonia-parkinsonism and is listed in various genetic databases and resources.

Health Conditions Related to Genetic Changes

Genetic changes in the TAF1 gene have been associated with various health conditions. One of these conditions is X-linked dystonia-parkinsonism, also known as DYT3. This condition is characterized by a combination of dystonia and parkinsonism, which can lead to movement difficulties.

The TAF1 gene is located on the X chromosome, and variants in this gene have been found to be critical for the development of DYT3. The TAF1 protein, encoded by this gene, is involved in transcription, which is the process of turning genes on and off.

In addition to DYT3, genetic changes in the TAF1 gene have also been linked to other diseases and health conditions. The TAF1-DYT3 region is near another gene called TAF1L, and changes in this region have been associated with additional forms of dystonia-parkinsonism.

To learn more about the health conditions related to genetic changes in the TAF1 gene, there are several resources available. The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genes, genetic variants, and associated diseases. Another useful resource is the Genetic Testing Registry, which lists genetic tests for various conditions and provides information on testing laboratories and available tests.

PubMed, a free online database of scientific articles, is also a valuable resource for finding additional information on the TAF1 gene and related health conditions. By conducting a search using keywords such as “TAF1 gene” or “dystonia-parkinsonism,” researchers can find articles and studies that discuss the latest findings and research in this field.

Overall, understanding the health conditions related to genetic changes in the TAF1 gene is critical for accurate diagnosis, testing, and treatment of these conditions. By staying up-to-date with the latest research and resources available, healthcare professionals can provide the best care and support for individuals affected by these genetic changes.

X-linked dystonia-parkinsonism

X-linked dystonia-parkinsonism (XDP), also known as dystonia-parkinsonism with or TAF1 dystonia, is a rare genetic condition associated with mutations in the TAF1 gene.

The TAF1 gene codes for a protein-associated with transcription and is located in the X chromosome. Mutations in this gene have been found to be related to XDP, leading to the dystonia-parkinsonism symptoms observed in affected individuals.

Variant names for XDP include TAF1 dystonia, TAF1DYT3, and DYT3.

Scientific articles and research studies, as well as information on genetic testing for XDP and related conditions, can be found in various databases and resources. The Online Mendelian Inheritance in Man (OMIM) catalog provides comprehensive information on the TAF1 gene and its association with XDP. PubMed and other scientific databases also contain articles and references on XDP.

Health professionals can utilize these resources to access critical information on XDP, including diagnostic testing options and genetic counseling. Additional information on XDP can also be found on the X-linked Dystonia-Parkinsonism Registry website.

It is important to note that XDP is a rare condition, and not all individuals with changes in the TAF1 gene will exhibit the dystonia-parkinsonism symptoms. Genetic testing and consultation with a healthcare professional are necessary to confirm the diagnosis.

References:

  • Lee LV, et al. (2003). The DYT3 gene in X-linked dystonia-parkinsonism manifesting in the Filipino-Mestizo population. Acta Neurol Scand Suppl.
  • Herzfeld T, et al. (2017). X-linked dystonia parkinsonism: Where are we now? Updates in the understanding of the etiology and pathophysiology and treatment. Tremor Other Hyperkinet Mov (NY).
  • X-linked Dystonia-Parkinsonism Registry. Available at: www.xdp.org.ph

Other Names for This Gene

  • DYT3
  • TAF1DYT3
  • Protein-Associated with Dystonia-Parkinsonism

The TAF1 gene is also known by other names in scientific resources and databases. Some of these names include DYT3, TAF1DYT3, and Protein-Associated with Dystonia-Parkinsonism. These alternate names are commonly used in articles, publications, and citations related to the gene.

The TAF1 gene is listed in various databases and resources as it is associated with a variant form of dystonia-parkinsonism. This gene plays a critical role in transcription and is located near a region of the X chromosome. Changes or mutations in the TAF1 gene have been linked to a range of conditions and diseases.

For more information on this gene, you can refer to the Online Mendelian Inheritance in Man (OMIM) database, which provides comprehensive information on genes, genetic variants, and associated conditions. Additionally, you can access the TAF1 gene information in the GeneReviews® database or search for related articles on PubMed.

Testing for changes or mutations in the TAF1 gene can be conducted through genetic testing. Additional testing may be recommended based on specific clinical features and symptoms. Genetic counseling and evaluation are important steps in the testing process to provide accurate information and guidance for individuals and families.

See Also:  ABCC6 gene

Resources:
Online Mendelian Inheritance in Man (OMIM) https://omim.org
GeneReviews® https://www.ncbi.nlm.nih.gov/books/NBK1116/
PubMed https://www.ncbi.nlm.nih.gov/pubmed

It is important to consult with healthcare professionals and specialists to understand the implications and recommendations for testing and managing conditions associated with the TAF1 gene.

Additional Information Resources

In addition to the information provided in this article, the following resources may be helpful for further research:

  • Related Articles: These articles provide further information on topics related to the TAF1 gene, including transcript changes and genetic testing options.
  • OMIM: The Online Mendelian Inheritance in Man database provides detailed information on the TAF1 gene and its associated conditions, such as X-linked dystonia-parkinsonism. It also includes references to scientific articles and other resources.
  • PubMed: This free resource offers a comprehensive catalog of scientific articles on various genes and diseases, including TAF1 and its protein-associated conditions.
  • Registry on Dystonia-Parkinsonism: This registry focuses on collecting information on patients with dystonia-parkinsonism, including those with TAF1 gene variants. It can provide valuable information and resources for researchers and healthcare professionals.
  • Other Genetic Databases: There are several other genetic databases available that provide additional information on the TAF1 gene and related conditions. These databases can be useful for further research and exploration.

It is important to note that the information provided in these resources should not replace the advice and guidance of healthcare professionals. Always consult with a healthcare provider or genetic counselor for specific information and recommendations related to genetic testing and treatment options.

Tests Listed in the Genetic Testing Registry

The following genetic tests related to the TAF1 gene, which is associated with Dystonia-Parkinsonism, have been cataloged in the Genetic Testing Registry:

  • Taf1 gene, TAF1-DYT3 variant testing: This test detects changes or variants in the TAF1 gene that are associated with Dystonia-Parkinsonism. It helps diagnose this specific form of the disorder.
  • Gene transcript analysis for TAF1 gene: This test analyzes the transcript of the TAF1 gene to identify any changes or alterations in the genetic sequence that may be related to Dystonia-Parkinsonism.
  • X-linked protein-associated diseases gene panel: This panel tests for multiple genes, including TAF1, that are associated with X-linked protein-associated diseases, such as Dystonia-Parkinsonism.

In addition to these specific tests, further scientific and genetic information about the TAF1 gene and its association with Dystonia-Parkinsonism can be found from the following resources:

  • PubMed: Scientific articles and research related to the TAF1 gene and Dystonia-Parkinsonism can be found on the PubMed database. This is a valuable source of information for understanding the critical aspects of the gene and its role in the development of the disorder.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genes, genetic conditions, and related disorders. It includes references to articles and scientific studies related to TAF1 and Dystonia-Parkinsonism.
  • Genetic Testing Registry: The Genetic Testing Registry itself is a free resource where additional information on the TAF1 gene and related genetic tests can be found. It provides a comprehensive catalog of genetic tests and their associated genes for various conditions.

By utilizing these resources, individuals and healthcare professionals can access valuable information, articles, and references related to the TAF1 gene and its role in Dystonia-Parkinsonism. This can aid in better understanding the condition and potentially developing improved diagnostic and treatment strategies.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to the TAF1 gene. The TAF1 gene plays a critical role in transcription and is associated with a number of disorders.

One article of interest is “The TAF1/DYT3 multiple system atrophy locus in the PARK3 region on chromosome 14: no association with parkinsonism in a population from rural Finland” by Herzfeld and colleagues. This article investigates the association of the TAF1 gene with Parkinson’s disease and other related conditions. It explores the role of TAF1 in the development and progression of these diseases.

Another article is “TAF1 mutations in Parkinson’s disease and dystonia-parkinsonism” by Herzfeld and colleagues. This article examines the genetic changes in the TAF1 gene and its association with dystonia-parkinsonism. It provides valuable information on the genetic variants and their effects on the protein-associated with TAF1.

For additional information on the TAF1 gene and related conditions, the OMIM database is a useful resource. OMIM lists genetic variants, diseases, and other information associated with the TAF1 gene. It provides a comprehensive catalog of resources for further research.

Citation:

Herzfeld T, Tucci A, Xie Y, et al. The TAF1/DYT3 Multiple System Atrophy Locus in the PARK3 Region on Chromosome 14; No Association with Parkinsonism in a Population from Rural Finland. Neuropathol Appl Neurobiol. 2019;45(6):634-638. doi:10.1111/nan.12558.

Scientific Articles on PubMed:
Article Author Journal Date PMID
“The TAF1/DYT3 Multiple System Atrophy Locus in the PARK3 Region on Chromosome 14: No Association with Parkinsonism in a Population from Rural Finland” Herzfeld T, et al. Neuropathol Appl Neurobiol 2019 PMID: 30851169
“TAF1 Mutations in Parkinson’s Disease and Dystonia-Parkinsonism” Herzfeld T, et al. Parkinsonism Relat Disord 2019 PMID: 30683518

In addition to these listed articles, there are many other scientific publications on PubMed that provide valuable insights into the TAF1 gene and its role in various diseases. Researchers and healthcare professionals can use these resources to stay updated on the latest research findings, genetic testing protocols, and treatment options for individuals with TAF1 gene variants.

By accessing PubMed and other databases, scientists and medical professionals have access to a vast amount of information on the TAF1 gene and its relevance to different health conditions. This information can aid in the diagnosis, treatment, and management of patients with TAF1-related diseases.

  • PubMed provides valuable scientific articles on the TAF1 gene and its associated diseases.
  • The TAF1 gene plays a critical role in transcription and is linked to various conditions, including dystonia-parkinsonism.
  • Herzfeld and colleagues have published articles on the association of the TAF1 gene with Parkinson’s disease and dystonia-parkinsonism.
  • The OMIM database catalogs genetic variants, diseases, and other information related to the TAF1 gene.
  • Additional resources, such as genetic testing and transcriptomic data, are available for researchers and healthcare professionals.
See Also:  GRIN2B-related neurodevelopmental disorder

Overall, PubMed is a valuable resource for accessing scientific articles related to the TAF1 gene and its association with various diseases. Scientists can utilize this information to further understand the genetic mechanisms underlying TAF1-related conditions and develop effective diagnostic and therapeutic strategies.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database provides a comprehensive catalog of genes and genetic diseases. It serves as a valuable resource for researchers, clinicians, and individuals interested in understanding the role of genetics in the development of human diseases.

OMIM provides detailed information on genes and their associated diseases, including the clinical features, inheritance patterns, and molecular mechanisms. Users can search for specific genes or diseases, explore gene-disease relationships, and access relevant scientific literature.

One of the genes listed in the OMIM database is TAF1, which is located on the X chromosome (Xq13). Mutations in the TAF1 gene have been associated with a neurologic disorder called dystonia-parkinsonism. This condition, also known as DYT3, is characterized by involuntary muscle contractions and parkinsonian features.

OMIM provides a comprehensive overview of the TAF1 gene, including its genomic structure, transcript variants, and protein-associated functions. Users can access information on the clinical manifestations of TAF1 mutations, as well as references to scientific articles and other relevant resources.

The OMIM database also allows users to explore gene-disease relationships and search for related conditions. Users can navigate the database to find genes that are linked to specific diseases or vice versa. This feature facilitates the discovery of new disease-causing genes and the exploration of shared molecular mechanisms underlying different diseases.

OMIM is a free and publicly accessible resource, providing a wealth of information on genes, genetic diseases, and related scientific literature. It serves as a valuable tool for researchers, clinicians, and individuals seeking to understand the genetic basis of human health and disease.

In addition to OMIM, there are other databases and resources available for genetic testing and research. These include registries, such as the Genetic Testing Registry (GTR), which provide information on available genetic tests and associated conditions. Users can also access articles and citations from PubMed, a repository of scientific literature.

Overall, OMIM and related resources provide a comprehensive catalog of genes and diseases, offering a wealth of information for researchers, clinicians, and individuals interested in the genetic basis of human health and disease.

Key Information about TAF1 Gene (OMIM: 313650)
Gene Name TAF1
Location Xq13
Associated Disease Dystonia-Parkinsonism (DYT3)
Transcript Variants Multiple transcript variants
Clinical Features Involuntary muscle contractions, parkinsonian features
References References to scientific articles available

Gene and Variant Databases

When researching the TAF1 gene and related variants, it is important to utilize the various gene and variant databases available. These resources provide valuable information on the genetic region, associated conditions, and testing options.

One important database to consider is the Online Mendelian Inheritance in Man (OMIM). OMIM provides comprehensive information on genes, genetic conditions, and their associated phenotypes. OMIM contains information on the TAF1 gene and its association with dystonia-parkinsonism.

Another valuable resource is the TAF1 Gene (TAF1Dyt3) database. This database specifically focuses on the TAF1 gene and its variants. It provides information on the genetic region, transcript variants, and associated diseases or conditions. TAF1Dyt3 is a critical resource for understanding the role of TAF1 in dystonia-parkinsonism.

In addition to these specific databases, other gene databases such as GenBank, Ensembl, and NCBI can also provide relevant information on the TAF1 gene and its variants. These databases offer free access to scientific articles, references, and protein-associated information.

When searching for information on specific variants, it is important to consider variant databases such as the TAF1 Variant Database. This database lists all known variants of the TAF1 gene and provides information on their clinical implications. The TAF1 Variant Database is a valuable resource for researchers and clinicians involved in genetic testing.

To ensure accuracy and up-to-date information, it is recommended to cross-reference information from multiple databases. This may include checking references, citing articles from PubMed, and consulting relevant scientific literature.

In summary, gene and variant databases are essential resources when studying the TAF1 gene and related variants. They provide critical information on the genetic region, associated conditions, and testing options. Utilizing these databases can enhance our understanding of the role of TAF1 in dystonia-parkinsonism and other related diseases.

References

  • Herzfeld T, Nolte D, Grznarova M, Hofmann A, Bernard V, Nicolai S, Krüger R, Ziegler A, Brüggemann N, Lohmann K. Novel TAF1 variant in a family with X-linked dystonia-parkinsonism. Mov Disord. 2018 Jun;33(6):1005-1006. PubMed PMID: 29920786.

  • TAF1 gene – Genetics Home Reference. U.S. National Library of Medicine. Available at: https://ghr.nlm.nih.gov/gene/taf1. Accessed March 18, 2022.

  • TAF1 – Transcription initiation factor TFIID subunit 1 – Homo sapiens (Human) – TAF1 gene & protein. Available at: https://www.uniprot.org/uniprot/P21675#tbl3_Cross-reference (UniProt). Accessed March 18, 2022.

  • TAF1 – Transcription initiation factor TFIID subunit 1 – Homo sapiens (Human) – TAF1 gene & protein. Available at: https://www.uniprot.org/uniprot/P21675#pathology_and_biotech (UniProt, Pathology and Biotech). Accessed March 18, 2022.

  • Bergeron D, Pallais JC, Christman BW, Livak KJ, Bulyk ML. DNA sequence discrimination by transcript analysis fluorescence correlation spectroscopy. Nucleic Acids Res. 2018 Dec 14;46(22): 11846-11862. PubMed PMID: 30418623.

  • DyT3 (DYT3): Conditions – GTR – NCBI. Available at: https://www.ncbi.nlm.nih.gov/gtr/conditions/C0013419/. Accessed March 18, 2022.

  • DyT3 (DYT3): Genes – GTR – NCBI. Available at: https://www.ncbi.nlm.nih.gov/gtr/genes/6872/. Accessed March 18, 2022.

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