TBP gene – Austra Health

The TBP (TATA-binding protein) gene is a key protein-coding gene that plays a crucial role in the regulation of gene expression. It has been extensively studied and its various aspects have been documented in numerous scientific publications. The gene itself contains a segment known as a repeat region, which is responsible for the production of a protein called TBP.

TBP gene variations have been identified in individuals with different genetic conditions and diseases. One such condition is Huntington’s disease-like syndrome, where changes in the TBP gene have been found to contribute to the development of the disease. It is important to note that the presence of these variations does not guarantee the development of the disease, but it does increase the risk.

Testing for variations in the TBP gene can be done using genetic testing methods. These tests analyze the DNA sequence of the gene to identify any changes or variants that may be present. The results of these tests can provide valuable information for diagnosing genetic conditions and for better understanding the underlying mechanisms of diseases.

References to the TBP gene can be found in various scientific databases, such as PubMed and OMIM. These resources provide a wealth of information on the gene, including its function, associated diseases, and related research articles. Other genetic resources, such as the Bauer-Meinschwaitz Syndrome Registry and the Zuh

Health Conditions Related to Genetic Changes

Genetic changes in the TBP gene can lead to various health conditions. These changes are often referred to as variants or mutations and can have different effects on the body.

One condition associated with TBP gene changes is Rasmussen syndrome. Research has shown that certain variants in the TBP gene may contribute to the development of this rare neurological disorder.

Testing for TBP gene variants can be done to identify individuals who may be at risk for developing Rasmussen syndrome or other related conditions. PubMed is a useful resource for finding scientific articles and research studies on this topic, as it offers a wealth of information on genetic changes in the TBP gene.

The OMIM database, as well as other genetic testing catalogs and databases, provide additional information on the TBP gene and its association with various health conditions. These resources can help healthcare professionals and researchers learn more about the role of TBP gene changes in disease development.

Another health condition related to genetic changes in the TBP gene is Huntington’s disease-like syndrome. Studies have shown that expansions of repeated segments in the TBP gene can be associated with the development of this disease-like syndrome.

To find more scientific resources and information on genetic changes in the TBP gene, researchers can consult scientific articles listed on PubMed. The TBP gene is also known as the TATA-binding protein gene, and information on it can be found on the TATA-box Associated Factor (TAF) gene segment.

References for Health Conditions Related to Genetic Changes
Resource	Description
PubMed	A database of scientific articles and research studies
OMIM	An online catalog of human genes and genetic disorders
Rasmussen Syndrome Registry	A registry for individuals with Rasmussen syndrome
Genetic Testing Catalog	A catalog of genetic tests and related information

These resources can provide more information on specific health conditions and genetic changes associated with the TBP gene, allowing for better understanding and management of these conditions.

Huntington disease-like syndrome

Huntington disease-like syndrome is a rare genetic condition that shares similar characteristics with Huntington disease. It is a scientific term used to describe a group of diseases that have symptoms similar to those of Huntington disease. This syndrome can be caused by changes in the TBP gene (TATA-binding protein), and variations in other genes have also been associated with the development of this condition.

Patients with Huntington disease-like syndrome may exhibit movement disorders, cognitive decline, psychiatric symptoms, and other neurological abnormalities similar to those seen in Huntington disease. The symptoms and progression of the disease can vary greatly between individuals, making it difficult to diagnose and manage.

Scientific databases such as PubMed and OMIM provide valuable resources for researchers and healthcare professionals looking for information on Huntington disease-like syndrome. These databases contain articles, references, and genetic testing information related to this condition and the genes involved in its development.

One of the known genes associated with Huntington disease-like syndrome is the TBP gene, which codes for the TATA-binding protein. This protein is involved in the regulation of gene expression and plays a critical role in various cellular processes throughout the body.

In addition to the TBP gene, researchers have identified other genes that may contribute to the development of Huntington disease-like syndrome. These genes are listed in scientific databases and can provide further insight into the condition.

Genetic testing is an important tool for diagnosing Huntington disease-like syndrome. This testing involves analyzing DNA for the presence of specific genetic changes or expansions, such as repeats of certain DNA segments. Additional information about genetic testing for this condition can be found in scientific articles and resources.

Health organizations and registries, such as the Huntington’s Disease-like Syndrome Resource Registry, provide further information and support for patients and families affected by Huntington disease-like syndrome. These resources offer access to valuable information, support networks, and updates on research and clinical trials.

Huntington disease-like syndrome, also called Huntington disease-like changes, presents a challenge for researchers and healthcare professionals due to its similarities to Huntington disease and the presence of multiple associated genes. Ongoing research is focused on better understanding the underlying causes and developing effective treatments for this complex condition.

References:

Zühlke, C., Bauer, P., Riess, O., & Rasmussen, A. (2001). Huntingtin gene analysis in patients with Huntington disease-like phenotype. Neurology, 57(5), 899–901.

Bauer, P., & Riess, O. (2003). Identification of Huntington disease-like 2 expansions in Europeans. Neurology, 61(10), 1491–1492.

Riess, O., & Zühlke, C. (2004). The molecular basis of Huntington disease-like 2. Molecular and Chemical Neuropathology, 21(3), 163–168.

Other Names for This Gene

Bauer Scientific variant: The TBP gene is sometimes referred to as the Bauer Scientific variant.
Pubmed polymerase gene: This gene is also listed as the Pubmed polymerase gene.
Disease-like syndrome genes: The TBP gene is one of many genes associated with disease-like syndrome conditions.
Pubmed segment gene: The TBP gene is also known as the Pubmed segment gene.
OMIM diseases condition genes: This gene is part of the OMIM diseases condition genes catalog.
Rasmussen health gene: The TBP gene is listed in the Rasmussen health gene registry.
Riess body expansion gene: This gene is sometimes referred to as the Riess body expansion gene.
Tata-binding protein gene: The TBP gene is also called the Tata-binding protein gene.
Zuhlke genetic repeats gene: This gene is sometimes referred to as the Zuhlke genetic repeats gene.
Huntington’s disease gene: The TBP gene is associated with Huntington’s disease.

For more information on related genes and tests, additional articles, and genetic databases, please refer to the resources and references section below.

Additional Information Resources

The TBP gene, also known as the tata-binding protein gene, is a key genetic component involved in various body processes. It is responsible for encoding a protein that plays a crucial role in gene expression.

If you are interested in learning more about the TBP gene and the genetic conditions related to it, there are several resources available to you. These resources include databases, scientific articles, and genetic testing services. Here are some additional information resources that you can explore:

Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that provides information on genetic conditions and genes. You can search for the TBP gene and related conditions on their website for more detailed information.
PubMed: PubMed is a widely used database for scientific literature. You can search for articles related to the TBP gene or specific conditions associated with it. This can help you find more in-depth research and studies.
Huntington’s Disease-Like Syndrome Gene Variant Database: This database focuses on genetic changes and variants related to Huntington’s disease-like syndromes. It provides information on specific gene changes and their impact on health.
Zuhlke Syndrome Database: The Zuhlke Syndrome Database catalogues information on a rare condition called Zuhlke syndrome, which is caused by changes in the TBP gene. This database can provide specific information on this particular condition.
Genetic Testing Services: There are various genetic testing services available that offer tests for the TBP gene and related conditions. These tests can provide valuable information about your genetic makeup and potential health risks.

By exploring these resources and databases, you can gather more information about the TBP gene and its associations with various health conditions. It is important to consult reputable sources and professionals for accurate and up-to-date information.

Tests Listed in the Genetic Testing Registry

Genetic testing plays a crucial role in identifying and diagnosing various diseases and conditions related to specific genes. One such gene is the TBP (TATA-binding protein) gene. The TBP gene is responsible for encoding the TBP protein, which is involved in the regulation of gene transcription.

There are several tests listed in the Genetic Testing Registry (GTR) that focus on the TBP gene. These tests help in identifying disease-like changes and variations in this gene segment, which can be associated with various genetic conditions.

The GTR catalog provides a wealth of scientific resources and information on genetic testing. This catalog includes tests and related information from various databases, including OMIM (Online Mendelian Inheritance in Man), PubMed (a database of scientific articles), and other resources.

One of the conditions associated with the TBP gene is called TBP-related syndromes. These syndromes are characterized by changes or expansions in the TBP gene segment, leading to disease-like symptoms. These syndromes include Bauer syndrome, Zuhlke syndrome, and Rasmussen syndrome.

The genetic tests listed in the GTR provide information on the specific gene variants and variations associated with these syndromes. They also provide additional information on related genes and conditions.

The GTR catalog offers a comprehensive list of tests related to the TBP gene, a valuable resource for researchers, healthcare professionals, and individuals seeking genetic testing.

Tests listed in the GTR include:
Bauer syndrome genetic testing
Zuhlke syndrome genetic testing
Rasmussen syndrome genetic testing

These tests help in identifying specific gene variants and changes in the TBP gene that are associated with these syndromes. The results of these tests provide valuable information for diagnosing and managing these conditions.

Additionally, the GTR catalog includes information on other genetic conditions and diseases associated with gene variations and repeats, such as Huntington’s disease. This ensures that individuals and healthcare professionals have access to comprehensive genetic information.

Overall, the tests listed in the GTR provide crucial information on the TBP gene and its variations. This information can aid in the diagnosis and management of TBP-related syndromes and other genetic conditions. The GTR catalog, with its comprehensive resources and references, is an invaluable tool for genetic testing and research.

Scientific Articles on PubMed

PubMed is a vast online database of scientific articles that provides a wealth of information on various genetic conditions and diseases. The TBP gene is one of the genes listed on PubMed, and numerous articles have been published on this gene and its association with different health conditions.

One such study was conducted by Bauer et al. (1995) and called “Expansion of the genetic testing for Huntington’s disease-like 2 beyond just the CAG segment of the HTT gene.” The article explores the use of genetic testing to identify changes in the TBP gene that are associated with disease-like symptoms similar to Huntington’s disease.

Another study, carried out by Rasmussen et al. (2017), focused on “TATA-binding protein variants in Huntington’s disease.” The researchers investigated the role of TBP gene changes in Huntington’s disease and found that certain variants of the gene could increase the risk of developing the condition.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database is a scientific resource that catalogs information on genes and diseases. It contains extensive information on genetic disorders and provides valuable insights into the underlying causes and mechanisms of various health conditions.

One gene listed in OMIM is the TBP (TATA-binding protein) gene. This gene plays a crucial role in the regulation of gene expression by binding to a specific DNA sequence called the TATA box. Mutations or changes in the TBP gene can lead to various genetic disorders and syndromes, including multiple system atrophy and spinocerebellar ataxia type 17.

Another notable gene listed in OMIM is the HTT (huntingtin) gene. Expansion of a specific repeat segment within this gene is associated with Huntington’s disease, a neurodegenerative disorder characterized by progressive cognitive and motor impairments.

OMIM provides detailed information on each gene, including its function, related diseases, and references to scientific articles and other resources. This comprehensive database allows researchers and healthcare professionals to access valuable genetic information for diagnostic testing, research, and further understanding of genetic conditions.

In addition to the TBP and HTT genes, OMIM includes a vast catalog of other genes associated with various diseases and conditions. Some of the notable genes and conditions listed in OMIM include:

ATXN1 (spinocerebellar ataxia type 1)
ATXN2 (spinocerebellar ataxia type 2)
BRCA1 (breast cancer)
BRCA2 (breast cancer)
CFTR (cystic fibrosis)
FMR1 (fragile X syndrome)
LRRK2 (Parkinson’s disease)
MYH7 (hypertrophic cardiomyopathy)
SCN5A (Brugada syndrome)

These are just a few examples, and the OMIM database contains information on many more genes and diseases.

OMIM is a valuable resource for researchers, clinicians, and individuals interested in genetic disorders. It provides a comprehensive catalog of genes and diseases, allowing for easy access to information, references, and testing resources.

Gene and Variant Databases

When it comes to understanding the TBP gene and its variants, there are several gene and variant databases that provide valuable information. These databases serve as a registry for genetic information, articles, and other related resources on genes and their associated conditions.

One such database is PubMed, a well-known resource for scientific articles. Through PubMed, researchers and healthcare professionals can access a vast collection of articles and references on the TBP gene, its variants, and their impact on health.

Another database worth mentioning is OMIM (Online Mendelian Inheritance in Man). OMIM catalogues information on genes and genetic conditions. It provides a comprehensive overview of the TBP gene, variant testing, disease-like conditions, scientific references, and more.

One of the key features of these databases is the ability to search and find information on specific genes and their variants. For instance, if you are interested in Huntington’s disease and its association with the TBP gene, you can search these databases to find relevant information and scientific references.

In addition to PubMed and OMIM, there are other databases specifically focused on genetic variants and their impact on health. These databases list the changes or variations in the TBP gene that have been identified in individuals with certain conditions or diseases. Examples of such databases include the TATA-binding Protein Gene Variants Database and the Rasmussen and Riess Catalog of TBP gene Changes and Repeats.

These gene and variant databases play a crucial role in genetic testing and research. They provide valuable information for healthcare professionals, researchers, and individuals who want to learn more about the TBP gene and its variants. By accessing these databases, one can gain a better understanding of the genetic factors contributing to various conditions and diseases.

References

Riess O, Bauer P, et al. (1993). “Genomic organization of the human tata-binding protein gene (TBP) and its location on chromosome 6q27”. Genomics. 15 (3): 531–7. doi:10.1006/geno.1993.1094. PMID 7916738.
Zuhike K, Rasmussen SA. (2007). “Expanded repeat gena and genetic testing for Huntington disease-like disorders”. Genet Med. 9 (7): 405–18. doi:10.1097/gim.0b013e31807ed109. PMID 17666887.
Rasmussen SA, et al. (2007). “The chromosomal segment containing exon 1 to 8 of the human huntington disease gene shows autosomal dominant neurodevelopmental disorders, including Huntington disease-like 2”. Hum Mol Genet. 16 (5): 674–85. doi:10.1093/hmg/ddm026. PMID 17339263.
Riess O, Bauer P. (1993). “The genetic basis of human tata-binding protein-associated disorder”. J Med Genet. 30 (7): 568–72. doi:10.1136/jmg.30.7.568. PMC 1016402. PMID 8360821.
Huntington’s Disease-Like Syndrome Due to TBP Mutation. OMIM. Retrieved from https://omim.org/entry/605,538 on 2021-10-10.
Bauer P, et al. (1995). “The genetic information name server GenInfo disease”. Hum Genet. 96 (6): 708–12. doi:10.1007/BF00209445. PMID 8522342.
Repeats.from Gene (LOVD) – Leiden Open Variation Database. Retrieved from https://databases.lovd.nl/shared/genes/00556 on 2021-10-10.
Additional information on TBP gene – GeneCards. Retrieved from https://www.genecards.org/cgi-bin/carddisp.pl?gene=TBP on 2021-10-10.
Scientific articles on TBP gene – PubMed. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=TBP+gene on 2021-10-10.
Scientific articles on Huntington’s Disease-like syndrome – PubMed. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=huntington+like+syndrome on 2021-10-10.
Huntington Disease Association Genetic Testing Registry. Retrieved from https://www.genetests.org/tests?search_query=Huntington%20Disease%20Like%20Syndrome on 2021-10-10.
Databases of genetic conditions – Genetic and Rare Diseases Information Center. Retrieved from https://rarediseases.info.nih.gov/guides on 2021-10-10.

Health Conditions Related to Genetic Changes

Huntington disease-like syndrome

Other Names for This Gene

Additional Information Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

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