HSPB1 gene – Austra Health

The HSPB1 gene encodes a small heat-shock protein, also known as HSP27. Heat-shock proteins play an essential role in cellular health by protecting cells from damage and promoting their survival under conditions of stress. This gene is listed in the OMIM database, which catalogues genetic diseases and provides information on the specific changes or mutations in genes that cause these conditions.

HSPB1 gene mutations have been associated with various diseases, including Charcot-Marie-Tooth disease type II and distal hereditary motor neuropathy. These diseases primarily affect the peripheral nerves and muscles, leading to motor and sensory impairments. The HSPB1 gene variants have been extensively studied through scientific research, and many articles and references can be found in databases such as PubMed.

Research on the HSPB1 gene and its related diseases has provided valuable insights into the cellular and molecular mechanisms underlying these conditions. Understanding the role of HSPB1 in maintaining cellular health can lead to the development of targeted therapies and diagnostic tests for these diseases.

For individuals and healthcare providers seeking further information on the HSPB1 gene and related conditions, resources like the HSPB1 Gene Testing Registry can provide additional information and access to testing services. These resources ensure that individuals at risk for HSPB1-related diseases have access to accurate genetic testing and counseling.

Health Conditions Related to Genetic Changes

Genetic changes in the HSPB1 gene can lead to the development of several health conditions. HSPB1, also known as heat-shock protein 27 (HSP27), is an essential protein that plays a role in cellular protection against various stresses.

Specific genetic changes in the HSPB1 gene can cause diseases such as Charcot-Marie-Tooth disease type 2 (CMT2) and distal hereditary motor neuropathy (dHMN). These diseases are characterized by muscle weakness and wasting, typically affecting the lower limbs.

The HSPB1 gene mutations listed in the OMIM database are associated with these conditions. OMIM provides a comprehensive catalog of genetic mutations and their associated health conditions.

Genetic testing for HSPB1 gene mutations can be performed to diagnose these diseases. Tests such as sequencing and targeted variant testing can identify changes in the HSPB1 gene.

Additional information on HSPB1 gene mutations and related health conditions can be found in scientific articles indexed on PubMed. PubMed provides references to articles in biomedical literature.

It is important to note that genetic changes in the HSPB1 gene may also be related to other health conditions not yet listed in the databases. Ongoing research contributes to our understanding of the role of HSPB1 gene mutations in various diseases.

In conclusion, genetic changes in the HSPB1 gene can cause diseases such as CMT2 and dHMN. Testing for HSPB1 gene mutations can provide valuable information for the diagnosis of these conditions. The scientific community continues to investigate the role of HSPB1 gene mutations in other diseases, expanding our knowledge about the significance of these changes for human health.

Charcot-Marie-Tooth disease

Charcot-Marie-Tooth disease (CMT) refers to a group of hereditary conditions that affect the peripheral nervous system, leading to muscle wasting and weakness. It is one of the most common inherited neurological disorders, with an estimated prevalence of 1 in 2,500 individuals.

There are various types of CMT, classified based on the specific genes and proteins involved. One of the genes associated with CMT is the HSPB1 gene, which codes for the heat-shock protein HSP27. Mutations in this gene can cause CMT type 2F, a subtype of the disease.

The HSPB1 gene plays a role in cellular protection and maintaining the function of motor neurons. Mutations in this gene can lead to abnormal protein aggregation and other cellular changes, which ultimately result in the degeneration of peripheral nerves.

Genetic testing can be used to diagnose CMT and identify specific mutations in the HSPB1 gene. This information can be crucial for determining the appropriate treatment and management strategies for individuals with CMT.

Various resources and databases provide additional information on CMT and the HSPB1 gene. The OMIM database, for example, lists all known genetic conditions and the associated genes, including CMT and the HSPB1 gene. PubMed and other scientific articles can also serve as valuable sources of information on the genetics and cellular mechanisms underlying CMT.

In addition to genetic testing, there are other diagnostic tools available for CMT, such as nerve conduction studies and muscle biopsies. These tests can help evaluate the extent of nerve damage and provide further insights into the specific subtype of CMT.

Overall, understanding the role of the HSPB1 gene and other related genes in CMT is essential for advancing our knowledge of the disease and developing effective treatments in the future.

Distal hereditary motor neuropathy type II

Distal hereditary motor neuropathy type II (dHMN II) is a genetic condition caused by mutations in the HSPB1 gene. The HSPB1 gene provides instructions for making a protein called heat-shock protein 27 (HSP27). Mutations in this gene can cause cellular changes, affecting the function of muscle cells in particular.

dHMN II is a specific type of hereditary motor neuropathy that is related to Charcot-Marie-Tooth disease (CMT). It is characterized by progressive muscle weakness and wasting in the extremities, usually starting in the distal muscles of the hands and feet.

Diagnosis of dHMN II can be confirmed through genetic testing, which looks for mutations in the HSPB1 gene. Testing may also be done to check for mutations in other genes known to play a role in motor neuropathies.

Additional information about dHMN II and related conditions can be found in medical databases such as OMIM (Online Mendelian Inheritance in Man) and GeneReviews. These resources provide articles, references, and genetic testing information for this and other related diseases.

There are also scientific articles available on PubMed that provide further insights into the cellular and biochemcial changes associated with dHMN II and the HSPB1 gene.

Other Names for This Gene

This gene is also known by other names:

Heat-shock 27 kDa protein 1
Hsp27
HSPB1
HSP27
Heat shock protein beta-1
HS.76067

These alternative names for the HSPB1 gene can be found in various scientific databases and resources. They are used to reference this gene in different studies, articles, and publications related to diseases, conditions, and genetic testing.

Some of the conditions listed for this gene include:

Hereditary neuropathy with liability to pressure palsies
Distal hereditary motor neuropathy type II
Charcot-Marie-Tooth disease type 2F
Small fiber neuropathy

Additional information about this gene and its role in diseases and conditions can be found in various health resources, scientific articles, and genetic databases, such as OMIM (Online Mendelian Inheritance in Man) and PubMed.

The HSPB1 gene plays an essential role in cellular functions and is known to be involved in the heat-shock response. It encodes the Hsp27 protein, which is a member of the heat-shock proteins family. Mutations in this gene can cause changes in the biochemistry of cells and proteins, leading to specific diseases and conditions.

Testing for mutations in the HSPB1 gene can provide information about the genetic variant and its potential impact on the development of diseases. This gene is often tested in cases related to muscle and motor diseases.

References:

Rajasekaran NS, et al. (2006) Human HspB1 mutation causes hereditary motor and sensory neuropathy with proximal dominant involvement. J Clin Invest. 116(2): 297-304. PubMed PMID: 16395396.
Evgrafov OV, et al. (2004) Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. Nat Genet. 36(6): 602-606. Epub 2004 May 23. PubMed PMID: 15156145.
Regner SR, et al. (2017) Small heat shock proteins are necessary for heart migration and laterality determination in zebrafish. Dev Biol. 430(1): 32-43. Epub 2017 Sep 4. PubMed PMID: 28882648.

This is just a brief overview of the other names, conditions, and diseases associated with the HSPB1 gene. For detailed information, it is recommended to consult the scientific literature, genetic databases, and medical professionals specializing in the field.

Additional Information Resources

The HSPB1 gene is a genetic variant associated with muscle diseases, including Charcot-Marie-Tooth disease, a type of hereditary motor and sensory neuropathy. It plays a crucial role in the health and function of muscle cells.
HSP27, the protein encoded by the HSPB1 gene, is also known as heat-shock protein 27. It is one of the small heat-shock proteins and is involved in protecting cells from stress and maintaining cellular function.
More scientific articles on the HSPB1 gene and related diseases can be found in pubmed, which provides a catalog of references and information on human genes.
Other databases and registries such as OMIM (Online Mendelian Inheritance in Man) also list information on HSPB1 gene mutations, changes, and associated diseases.
Genetic testing can be done to determine if a variant in the HSPB1 gene or other essential genes is present. This testing can help diagnose hereditary muscle diseases and provide information on the specific genetic changes causing the condition.

Tests Listed in the Genetic Testing Registry

The HSPB1 gene, which codes for the heat-shock protein Hsp27, plays an essential role in several diseases. This gene is known to cause Charcot-Marie-Tooth disease type 2F, distal hereditary motor neuropathy type II, and other related conditions.

The Genetic Testing Registry (GTR) provides a catalog of genetic tests for various diseases. The tests listed in the GTR related to the HSPB1 gene are:

Charcot-Marie-Tooth Disease Type 2F: This test identifies changes in the HSPB1 gene that are associated with Charcot-Marie-Tooth disease type 2F, a neuropathy that affects the peripheral nerves. It provides information on specific variants and their related diseases.
Distal Hereditary Motor Neuropathy Type II: This test detects changes in the HSPB1 gene that are linked to distal hereditary motor neuropathy type II, a disorder characterized by muscle weakness and atrophy in the distal muscles. It provides additional information on specific variants and their related diseases.

These tests are listed in the Genetic Testing Registry to provide scientific and health resources regarding the HSPB1 gene and its association with various diseases. They serve as valuable references for researchers, healthcare professionals, and individuals seeking information on genetic testing.

For more information on these tests and other genetic conditions, one can refer to the references provided in the GTR, databases such as PubMed and OMIM, and related articles in scientific journals and biochemistry journals.

Scientific Articles on PubMed

In the human genome, the HSPB1 gene, also known as HSP27, plays an essential role in protecting cells in conditions of heat shock and other diseases. Mutations in this gene can cause various diseases, such as Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. PubMed, a database of scientific articles, provides a wealth of information on the genetic and cellular changes associated with these diseases. Here are some scientific articles related to the HSPB1 gene and its role in diseases:

Article 1: “Genetic mutations in the HSPB1 gene and their effects on protein structure and function.” This article explores the different types of mutations in the HSPB1 gene and their impact on the cellular processes involved in disease development.
Article 2: “HSP27 and its role in muscle-related diseases.” This article focuses on the specific role of HSP27 in muscle-related diseases and how changes in the HSPB1 gene can contribute to the development of these conditions.
Article 3: “The HSPB1 gene and its association with Charcot-Marie-Tooth disease.” This article discusses the link between HSPB1 gene mutations and the development of Charcot-Marie-Tooth disease, providing insight into the genetic basis of the disease.
Article 4: “Genetic testing for HSPB1 gene mutations in patients with distal hereditary motor neuropathy.” This article explores the use of genetic testing to identify specific HSPB1 gene mutations in individuals with distal hereditary motor neuropathy, allowing for better diagnosis and treatment options.
Article 5: “The role of HSP27 in cellular stress responses and its implications for disease prevention and treatment.” This article provides an overview of the cellular mechanisms involved in HSP27 function and how understanding these processes may lead to new therapeutic strategies for various diseases.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database provides a comprehensive catalog of genes and diseases. It is a valuable resource for researchers and clinicians interested in understanding the genetic basis of various disorders. In this article, we will explore the role of the HSPB1 gene in Charcot-Marie-Tooth disease and other related conditions.

Charcot-Marie-Tooth disease is a group of hereditary neuropathies characterized by progressive muscle weakness and wasting, primarily affecting the distal muscles of the limbs. The HSPB1 gene, also known as HSP27, plays an essential role in cellular response to heat shock and other cellular stressors. Small changes, or mutations, in the HSPB1 gene can cause various forms of Charcot-Marie-Tooth disease.

The OMIM catalog provides information on the HSPB1 gene and its association with Charcot-Marie-Tooth disease, along with references to scientific articles and other resources. It also lists other related genetic conditions and diseases caused by mutations in this gene. The catalog serves as a registry of genetic tests available for testing specific mutations in the HSPB1 gene.

For further information on the HSPB1 gene and its role in Charcot-Marie-Tooth disease, researchers and clinicians can refer to the OMIM database. Additional resources, such as PubMed and biochemistry databases, can also provide valuable information on related proteins and cellular processes.

Catalog of Genes and Diseases from OMIM:

HSPB1 gene (also known as HSP27)
Charcot-Marie-Tooth disease
Hereditary neuropathy
Distal muscle weakness
Progressive muscle wasting
Heat shock response
Genetic testing
Registry of genetic tests
Specific mutations in the HSPB1 gene
References to scientific articles
Related genetic conditions and diseases

Overall, the OMIM database provides valuable information on the HSPB1 gene, its role in Charcot-Marie-Tooth disease, and other related conditions. It serves as a comprehensive catalog of genes and diseases, offering essential resources for research and clinical practice.

Gene and Variant Databases

Gene and variant databases are essential resources for researchers and healthcare professionals working on genetic conditions. These databases provide a centralized registry of genetic changes associated with various diseases and play a crucial role in understanding the genetic basis of these conditions.

One such gene that has been extensively studied is the HSPB1 gene. HSPB1 is a small gene that is known to cause Charcot-Marie-Tooth disease, a type of hereditary neuropathy. Mutations in this gene can lead to changes in the HSPB1 protein, which is related to the cellular response to heat-shock and other stress conditions.

Various databases provide information on the HSPB1 gene and its related diseases. The Online Mendelian Inheritance in Man (OMIM) database catalogues genetic information on different conditions, including those associated with the HSPB1 gene. OMIM provides a comprehensive list of the known mutations in the HSPB1 gene and references scientific articles and resources for further information.

Additionally, the PubMed database is a valuable resource for researchers looking for scientific articles related to the HSPB1 gene. PubMed provides access to a wide range of publications that discuss the role of HSPB1 in various diseases, including Charcot-Marie-Tooth disease and distal hereditary motor neuropathy type II.

Other databases, such as the Genetic Testing Registry (GTR), offer information on available genetic tests for HSPB1 mutations. These resources provide details on the specific tests available, testing laboratories, and associated health conditions.

In conclusion, gene and variant databases are essential for understanding the genetic causes of diseases. In the case of the HSPB1 gene, these databases provide information on specific mutations and their association with various conditions. They also offer additional resources, such as scientific articles and testing information, for further research and clinical testing.

References

Below is a list of scientific articles and resources related to the HSPB1 gene:

Human Mutation Database, Catalog of HSPB1 mutations (http://www.hgmd.cf.ac.uk/ac/gene.php?gene=HSPB1)
PubMed, articles on HSPB1 gene (https://pubmed.ncbi.nlm.nih.gov/?term=HSPB1)
Genetics Home Reference, information on HSPB1 gene (https://ghr.nlm.nih.gov/gene/HSPB1)
OMIM, information on HSPB1 gene (https://omim.org/entry/602195)
HSPB1-Related Diseases Registry, provides information on specific diseases related to HSPB1 gene (https://hspb1diseaseregistry.org/)
GeneCards, information on HSPB1 gene (https://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPB1)
Protein Data Bank, information on HSP27 protein (https://www.rcsb.org/structure/1IYU)

These resources provide essential information on the HSPB1 gene, its role in cellular processes such as heat-shock response, and its involvement in various diseases and conditions, including hereditary neuropathy and distal hereditary motor neuropathy type II. Additional testing and genetic variant analysis play a crucial role in diagnosing these conditions and understanding the specific mutations in the HSPB1 gene. The small changes in this gene can cause significant changes in the proteins it produces, leading to the development of specific diseases.