KLHL3 gene – Austra Health

The KLHL3 gene, also known as KLHL3, is a scientific term related to pseudohypoaldosteronism type 2 (PHA2). It is one of the genes associated with the condition and plays a role in controlling the levels of certain proteins in the body. Pseudohypoaldosteronism is a group of genetic disorders that impair the body’s ability to regulate salt and water balance, which can lead to various health conditions.

The KLHL3 gene is listed in databases and resources related to genetic testing and research. Variants or changes in this gene have been found to be associated with pseudohypoaldosteronism type 2 and other related diseases. Additional information about the gene and its related proteins can be found in scientific articles, such as those listed in PubMed and OMIM.

Research on the KLHL3 gene and its related proteins is ongoing, and new discoveries continue to be made. The gene is part of a complex network of genes and proteins involved in the ubiquitin-proteasome system, which plays a role in protein degradation and control.

Genetic testing for changes in the KLHL3 gene may be available through specialized testing laboratories or research studies. This testing can help diagnose pseudohypoaldosteronism type 2 and other conditions related to the gene. It is important to consult with a healthcare provider or genetic counselor for more information and resources.

In conclusion, the KLHL3 gene is a significant scientific term related to pseudohypoaldosteronism and other health conditions. It is involved in controlling the levels of proteins in the body and is part of a complex network of genes and proteins. Genetic testing and research continue to shed light on the role of this gene in various diseases, providing valuable resources and references for further study.

Health Conditions Related to Genetic Changes

Genetic changes can have a profound impact on an individual’s health. Mutations or variations in genes can lead to the development of various health conditions. One such gene is the KLHL3 gene, which has been associated with several health conditions.

One of the health conditions related to changes in the KLHL3 gene is pseudohypoaldosteronism type 2 (PHA2). PHA2 is a rare genetic disorder characterized by impaired salt reabsorption in the kidneys, leading to electrolyte imbalances. The KLHL3 gene encodes a protein that is part of the ubiquitin-proteasome complex, which helps regulate the levels of other proteins in the body. Mutations in the KLHL3 gene can disrupt this protein complex and impair its ability to control the levels of certain proteins involved in salt reabsorption.

The KLHL3 gene is listed in various genetic databases and resources, such as OMIM (Online Mendelian Inheritance in Man). These resources provide information on the role of genes in health and disease, as well as references to scientific articles and other information related to genetic changes. Testing for mutations in the KLHL3 gene can be done to determine if an individual has a variant that is associated with PHA2 or other related conditions.

In addition to PHA2, other health conditions may be related to changes in the KLHL3 gene. The exact role of this gene in these conditions is still being investigated, and further research is needed to fully understand its implications. However, the identification of genetic changes in the KLHL3 gene can provide valuable information for healthcare providers and individuals affected by these conditions.

Overall, understanding the relationship between genetic changes and health conditions is crucial for the development of targeted treatments and interventions. By studying genes like KLHL3 and their role in various diseases, researchers can gain insights into the underlying mechanisms of these conditions and potentially develop new therapeutic strategies.

Resources:

OMIM: Online Mendelian Inheritance in Man; a comprehensive catalog of human genes and genetic disorders.
PubMed: A database of scientific articles from various medical and scientific journals.
Ubiquitin-Proteasome Complex: A cellular complex involved in protein degradation and regulation.

Pseudohypoaldosteronism type 2

Pseudohypoaldosteronism type 2, also known as PHA2, is a genetic condition related to the KLHL3 gene. This gene is responsible for encoding a protein called KLHL3, which plays a role in the control of blood pressure and fluid balance in the body.

Individuals with PHA2 have a variant in the KLHL3 gene that impairs the function of the KLHL3 protein. This impairment leads to the improper control of sodium and potassium ions in the kidneys and other tissues, resulting in increased blood pressure and electrolyte imbalance.

The KLHL3 protein is part of a complex called the ubiquitin-proteasome system, which helps in the degradation of proteins. The variant in the KLHL3 gene prevents the proper function of this system, leading to the accumulation of other proteins that further impair ion balance and blood pressure regulation.

Diagnosis of PHA2 can be done through genetic testing, where specific variants in the KLHL3 gene can be identified. Additional tests, such as blood tests, urine tests, and imaging studies, may be done to assess the severity of the condition and rule out other related conditions.

There is a registry called the Pseudohypoaldosteronism Registry that catalogs information about this condition and other related diseases. It provides resources for patients, families, and healthcare professionals to learn more about the gene and the associated conditions.

References to known articles and scientific information related to PHA2 can be found in databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources list the names of authors, titles of articles, and other relevant information for further reading and research.

Other Names for This Gene

The KLHL3 gene is also known by other names, including:

BTB and kelch domain-containing protein 2 (KLHL3)
BTB and BACK domain-containing protein 2 (KLHL3)
BTB/POZ domain-containing kelch-like protein 3 (KLHL3)
Kelch-like protein 3 (KLHL3)
Probable Kelch-like protein 3 (KLHL3)
RP1-29F15.5 (KLHL3)

These names reflect the different scientific resources and databases that have referenced this gene and have used different naming conventions. The KLHL3 gene is part of a gene complex that includes other related genes. It is involved in the regulation of protein ubiquitination, which is a process crucial for the control of protein levels in cells.

Several variants and changes in the KLHL3 gene have been identified in genetic testing. These changes can impair the function of the protein it encodes, leading to various conditions and diseases. One of the well-known conditions associated with mutations in the KLHL3 gene is pseudohypoaldosteronism type 2 (PHA2), which affects the body’s ability to control salt balance.

Further information and testing for KLHL3 gene variants can be found in databases and resources such as OMIM (Online Medelian Inheritance in Man), Genet Testing Registry, PubMed, and additional scientific articles and references.

It is important to note that the information provided here is a summary and there may be additional names and resources related to the KLHL3 gene.

Additional Information Resources

There are various types of additional resources available for further information on the KLHL3 gene and related topics. These resources include scientific databases, testing services, and articles.

Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic conditions. It provides information on the role of genes in health and diseases, including pseudohypoaldosteronism. You can find information about the KLHL3 gene and related conditions in the OMIM database.
PubMed: PubMed is a database of scientific articles. You can search for articles related to the KLHL3 gene, pseudohypoaldosteronism, and other topics of interest.
Variant databases: There are several variant databases available that list genetic changes in the KLHL3 gene. These databases can be used to find information about specific variants and their implications.
Protein databases: Protein databases such as UniProt provide information about proteins, including the KLHL3 protein and its known functions.
Testing services: Some laboratories offer genetic testing for the KLHL3 gene and related conditions. These tests can help diagnose individuals with pseudohypoaldosteronism or other impairing changes in the gene.
Registry databases: Registry databases, such as the Genetests registry, provide information about genetic testing laboratories and available tests for specific genes and conditions.
References: Scientific articles and publications often provide references to other resources, including additional articles and databases, that can be consulted for further information on the KLHL3 gene and related topics.

Tests Listed in the Genetic Testing Registry

The KLHL3 gene, also known as kelch-like protein 3, is involved in the regulation of several physiological processes. Mutations in this gene can lead to impairing the function of the proteins it encodes. Genetic testing is available to identify changes in the KLHL3 gene that may be related to various conditions and diseases.

Tests listed in the Genetic Testing Registry (GTR) provide valuable resources for identifying and understanding the role of the KLHL3 gene in different genetic conditions. The GTR is a central catalog of genetic tests, with information on test names, genes, and variants. It also includes references to scientific articles and databases such as PubMed and OMIM, for additional information and resources.

For the KLHL3 gene, the GTR lists tests for pseudohypoaldosteronism type 2 (PHA2) and other related conditions. Pseudohypoaldosteronism type 2 is a rare genetic disorder that affects the control of electrolyte balance in the body. The KLHL3 gene is part of a protein complex called the ubiquitin-proteasome system, which plays a role in the degradation of specific proteins.

Genetic testing for PHA2 and other diseases related to the KLHL3 gene can help identify specific variants or changes in the gene that may be responsible for the condition. These tests can provide important information for diagnosis, prognosis, and treatment decisions.

References to scientific articles and resources in the GTR can help researchers and healthcare professionals stay updated on the latest research and developments regarding the KLHL3 gene and its associated conditions. This information can contribute to a better understanding of the genetic basis of diseases and the development of targeted therapies.

In summary, the Genetic Testing Registry (GTR) provides a comprehensive catalog of genetic tests related to the KLHL3 gene. These tests can help identify variants and changes in the gene that may be implicated in pseudohypoaldosteronism type 2 and other related conditions. The GTR also offers references to scientific articles and databases for additional information and resources.

Scientific Articles on PubMed

The KLHL3 gene, also known as Kelch-like protein 3, is a type of gene that plays a complex role in the ubiquitin-proteasome system. Mutations in this gene have been linked to various conditions and diseases, including pseudohypoaldosteronism type 2.

Resources	URL
PubMed	https://pubmed.ncbi.nlm.nih.gov/
OMIM	https://www.omim.org/

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic conditions. It provides information on the role of genes in various diseases and conditions, including the KLHL3 gene.

The KLHL3 gene is listed in the OMIM catalog as it plays a role in a rare genetic disorder called pseudohypoaldosteronism. This condition is characterized by impaired control of electrolyte balance and fluid regulation in the body.

In the OMIM catalog, the KLHL3 gene is mentioned in scientific articles and references related to pseudohypoaldosteronism. These references provide information on the genetic changes or variants in the KLHL3 gene that are associated with the condition.

OMIM also provides additional resources for genetic testing and information on related genes and diseases. It includes databases and registries for testing and diagnosis of pseudohypoaldosteronism and other complex genetic conditions.

One of the known variants of the KLHL3 gene, called Klhl3R528H, has been studied extensively and its role in pseudohypoaldosteronism has been documented in numerous scientific articles published in PubMed.

In addition to the KLHL3 gene, OMIM catalogs various other genes and their associated conditions. These include genes involved in the ubiquitin-proteasome system, which plays a critical role in protein degradation and regulation.

The catalog has organized the information about the KLHL3 gene and pseudohypoaldosteronism in an accessible format, making it a valuable resource for scientists, researchers, and healthcare professionals.

Overall, the OMIM catalog provides a wealth of information on genes, genetic conditions, and related scientific articles, offering a comprehensive overview of the field of genetics and its impact on human health.

Gene and Variant Databases

Genes and variants associated with the KLHL3 gene can be found in various databases, which provide valuable information about their function, impact on health, and related conditions. These databases contain extensive data on genes, including information on their known disease associations, genetic testing resources, and scientific articles.

One such database is OMIM (Online Mendelian Inheritance in Man), which catalogs genes and their associated diseases. OMIM provides information on genes known to be associated with specific diseases, including those that impair the function of the KLHL3 gene. Additionally, OMIM references related scientific articles and provides links to other genetic testing resources for further information.

The Genetests database is another valuable resource for information on genes and genetic tests. It provides comprehensive information on genes and their associated conditions, including pseudohypoaldosteronism and other conditions linked to KLHL3. Genetests also lists approved laboratories that offer testing for the KLHL3 gene.

The Human Gene Mutation Database (HGMD) is a curated database of genetic mutations associated with human diseases. It contains information on known genetic changes in the KLHL3 gene and their impact on protein function. HGMD is a valuable resource for researchers and clinicians seeking information on specific genetic variants.

The UniProt database provides detailed information on proteins and their functions. It contains information on various proteins, including those that are part of the ubiquitin-proteasome complex. KLHL3 is a member of this protein complex and plays a role in its control. UniProt provides information on the function and structure of KLHL3 as well as references to relevant scientific articles.

In addition to these databases, there are other resources available for researchers and clinicians seeking information on the KLHL3 gene and its variants. These resources include the PubMed database, which provides access to a wide range of scientific articles related to the KLHL3 gene, and the Genetic Testing Registry, which lists laboratories offering testing for KLHL3 gene variants.

References

KLHL3 gene on PubMed – provides articles related to the KLHL3 gene variant and its role in genetic control of complex conditions. (Source: PubMed)
KLHL3 gene on OMIM – additional information and scientific resources for studying the KLHL3 gene and related diseases. (Source: OMIM)
Pseudohypoaldosteronism type 2 – a condition impairing the control of potassium and sodium levels in the body, caused by changes in the KLHL3 gene. (Source: National Organization for Rare Disorders)
KLHL3 protein – also known as kelch-like protein 3, plays a role in the ubiquitin-proteasome system. (Source: NCBI Gene)
KLHL3 gene and related proteins – other genes and proteins associated with the KLHL3 gene and pseudohypoaldosteronism type 2. (Source: NCBI Gene)