PPP2R5D gene – Austra Health

The PPP2R5D gene is one of the genes involved in the development and regulation of various cellular processes. Mutations in the PPP2R5D gene have been found to be associated with specific conditions and diseases, such as intellectual disability and other developmental disabilities. This gene encodes one of the subunits of the enzyme known as protein phosphatase 2A (PP2A), which plays a crucial role in the regulation of cellular processes through the dephosphorylation of proteins.

Information on the PPP2R5D gene can be obtained from various genetic databases and resources. The Online Mendelian Inheritance in Man (OMIM) catalog, PubMed, and other scientific databases are valuable sources of articles, references, and additional information on ppp2r5d-related changes and associated diseases. The PPP2R5D gene is listed in the OMIM database with information on genetic testing, variant descriptions, and associated conditions.

The PPP2R5D gene is part of a family of genes known as protein phosphatase 2A regulatory subunits, with multiple subunits being involved in the regulation and function of the PP2A enzyme. The PPP2R5D gene, along with other subunits, plays a critical role in maintaining cellular homeostasis and proper cell functioning. Mutations in the PPP2R5D gene can lead to dysregulation of the PP2A enzyme, potentially resulting in various diseases and conditions.

Research on the PPP2R5D gene and associated conditions continues to provide valuable insights into the underlying molecular mechanisms and potential therapeutic strategies. The identification of ppp2r5d-related mutations and their implications for the development of targeted treatments is an active area of investigation.

The PPP2R5D gene is an important gene to study in the context of human health and disease. Understanding its role in regulating cellular processes and the consequences of mutations in this gene can contribute to the development of better diagnostic tests, therapeutic interventions, and improved health outcomes for individuals with ppp2r5d-related conditions.

Health Conditions Related to Genetic Changes

Genetic changes in the PPP2R5D gene have been identified as the cause of several health conditions. These changes can lead to various intellectual and developmental disabilities.

To understand the health conditions related to PPP2R5D gene mutations, it is important to consult scientific resources and databases that provide information on genetic changes and their associated effects. The Online Mendelian Inheritance in Man (OMIM) catalog, PubMed, and other authoritative sources can provide valuable references and articles on the topic.

The PPP2R5D gene encodes a regulatory enzyme called protein phosphatase 2A (PP2A), which is involved in many cellular processes. Mutations in this gene can disrupt the normal function of PP2A and lead to health conditions related to intellectual and developmental disabilities.

The specific health conditions associated with PPP2R5D gene mutations are collectively referred to as PPP2R5D-related disorders. These conditions may vary in severity and presentation. Common features include intellectual disability, developmental delay, speech and language difficulties, and autistic behaviors.

Diagnostic testing for PPP2R5D-related disorders typically involves genetic testing to identify mutations in the gene. Different testing methods may be used, including targeted sequencing, panel testing, or whole exome sequencing.

In addition to genetic testing, clinical evaluations and assessments are often conducted to provide a comprehensive picture of an individual’s health and development. These evaluations may involve physical examinations, cognitive assessments, and behavioral observations.

It is important for individuals and families affected by PPP2R5D-related disorders to have access to relevant resources and support. The PPP2R5D International Registry provides a platform for connecting families, sharing information, and raising awareness about these conditions.

Researchers and medical professionals continue to study PPP2R5D-related disorders to gain a better understanding of their underlying mechanisms and potential treatment options. The identification of additional genes and proteins involved in the development of these conditions may offer new therapeutic targets.

In summary, PPP2R5D-related disorders are health conditions that result from genetic changes in the PPP2R5D gene. These changes affect the function of the enzyme PP2A and can lead to intellectual and developmental disabilities. Genetic testing, clinical evaluations, and access to resources such as the PPP2R5D International Registry are important for the diagnosis and management of these conditions.

PPP2R5D-related intellectual disability

PPP2R5D-related intellectual disability is a genetic condition caused by changes in the PPP2R5D gene. This gene provides instructions for making a protein called regulatory subunit B’ epsilon (B’ε) that is involved in the regulation of an enzyme called protein phosphatase 2A (PP2A).

PP2A is a critical enzyme that helps control the activity of other proteins by removing phosphate groups from them. The B’ε subunit of PP2A is required for the proper function of this enzyme in the development and maintenance of the nervous system.

Individuals with PPP2R5D-related intellectual disability have mutations in the PPP2R5D gene that result in a decrease or loss of B’ε protein function. This disruption in PP2A regulation leads to impairment in the signaling pathways involved in brain development and function, ultimately causing intellectual disability.

PPP2R5D-related intellectual disability is characterized by deficits in intellectual abilities, delayed speech and language development, and learning difficulties. Some individuals may also have behavioral issues, such as attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD).

Diagnosis of PPP2R5D-related intellectual disability is typically confirmed through genetic testing. Sequence analysis of the PPP2R5D gene can identify specific mutations or variants that are associated with this condition. Additionally, other genetic testing, such as chromosomal microarray analysis, may be performed to rule out other genetic causes of intellectual disability.

There are several resources available for individuals and families affected by PPP2R5D-related intellectual disability. The Genetic and Rare Diseases Information Center (GARD), Online Mendelian Inheritance in Man (OMIM), and PubMed are scientific databases that provide information on this condition, including articles and references. The Deciphering Developmental Disorders (DDD) study and the DECIPHER database also offer additional resources and genetic information.

Management of PPP2R5D-related intellectual disability involves a multidisciplinary approach. This may include supportive therapies for intellectual and developmental delays, speech and language therapy, behavioral interventions, and educational support. Regular monitoring of developmental progress and coordination with healthcare professionals are crucial for optimizing the health and well-being of individuals with this condition.

In summary, PPP2R5D-related intellectual disability is a genetic condition caused by changes in the PPP2R5D gene. These changes result in a disruption of PP2A regulation and lead to intellectual disabilities and other associated features. Genetic testing and resources are available to aid in diagnosis and management of this condition.

Other Names for This Gene

PPP2R5D gene
PP2A B56-δ
PPP2R5D-related intellectual disability
PPP2R5D-related developmental delay and intellectual disability
Protein phosphatase 2 regulatory subunit B’ delta
Protein phosphatase 2 regulatory subunit B56 delta

PP2A B56-δ is a gene that is also known by several other names. In addition to PPP2R5D gene, it is also referred to as PPP2R5D-related intellectual disability or PPP2R5D-related developmental delay and intellectual disability. This gene encodes for the protein phosphatase 2 regulatory subunit B’ delta (PP2A B56-δ).

PP2A B56-δ is involved in the regulation of various processes in the body. Mutations or changes in this gene have been associated with intellectual disability and developmental delay. These conditions are often referred to as PPP2R5D-related intellectual disability and PPP2R5D-related developmental delay and intellectual disability.

The PPP2R5D gene has been studied extensively in scientific research. There are various published articles and references available on this gene. These resources provide valuable information on the gene’s function, its involvement in diseases and conditions, and its regulatory role in the body.

Testing for ppp2r5d-related intellectual disability and developmental delay can be done through genetic tests. Many laboratories and testing facilities offer specific tests for mutations and variants in the PPP2R5D gene. Information on testing options and laboratories can be found in online databases and resources.

Some of the databases and resources that provide information on the PPP2R5D gene include Online Mendelian Inheritance in Man (OMIM), PubMed, and the Genetic Testing Registry. These resources contain articles, references, and additional information on the gene, its associated conditions, and related genes and proteins.

Overall, the PPP2R5D gene, also known as PP2A B56-δ, is an important gene involved in intellectual disability and developmental delay. It plays a regulatory role as part of the protein phosphatase 2 complex. Understanding the function and mutations in this gene can provide valuable insights into various related diseases and conditions.

Additional Information Resources

Here are some additional resources related to the PPP2R5D gene:

Gene Names: The PPP2R5D gene is also known by other names, such as alpha 4, B56 delta, B5G1, and PR61D2.
Genetic Registry: There is a genetic registry for the PPP2R5D gene, which provides information on individuals with genetic changes in this gene.
Development and Diseases: PPP2R5D gene mutations are associated with developmental disabilities and other conditions.
Phosphate: PPP2R5D is a regulatory subunit of the protein phosphatase 2A (PP2A) enzyme.
PP2A-related Genes: There are other genes involved in the regulation of PP2A, which may be related to PPP2R5D.
OMIM: You can find variant information and related articles on the PPP2R5D gene on the Online Mendelian Inheritance in Man (OMIM) database.
PubMed: PubMed is a scientific database where you can find articles related to the PPP2R5D gene and its involvement in various conditions.
Testing: Genetic testing can be done to identify mutations in the PPP2R5D gene.

In addition to these resources, there are other databases, scientific articles, and health-related websites that provide information on PPP2R5D and its role in intellectual disability and other conditions. Please refer to the references and additional resources listed in the publications and databases for more information.

This article was last reviewed on MM-DD-YYYY and is based on information available at that time. For the most up-to-date information, please visit the listed resources or consult with a healthcare professional.

Tests Listed in the Genetic Testing Registry

The PPP2R5D gene encodes for proteins that are involved in the regulation of phosphorylation. Mutations in this gene have been associated with intellectual disability and other developmental conditions.

Genetic testing can help identify changes in the PPP2R5D gene that may be related to these conditions. The Genetic Testing Registry (GTR) lists tests that are available for the analysis of this gene. These tests can provide important information for diagnosis and management of patients with PPP2R5D-related disorders.

The GTR is a database of genetic tests and related information, curated by the National Institutes of Health. It includes information on the purpose of the test, the gene or genes being analyzed, the types of mutations that are detected, and references to scientific articles and databases that provide additional information.

For the PPP2R5D gene, the GTR lists tests that analyze the gene for mutations. These tests can be used to identify variants in the gene that are associated with intellectual disability and other developmental conditions. The GTR provides references to scientific articles and databases that contain more information on the gene and its role in disease.

In addition to the GTR, there are other resources available for information on the PPP2R5D gene and its related conditions. The Online Mendelian Inheritance in Man (OMIM) catalog provides information on genes and genetic disorders. The PubMed database contains scientific articles that discuss the role of the PPP2R5D gene in disease.

Genetic testing for the PPP2R5D gene is an important tool in the diagnosis and management of intellectual disability and related conditions. The Genetic Testing Registry and other resources provide valuable information on the gene, its mutations, and their association with disease. By analyzing the PPP2R5D gene, healthcare professionals can gain insight into the regulatory enzyme for phosphate and subunits and support the development of personalized health strategies for patients.

References:

Genetic Testing Registry – PPP2R5D
Online Mendelian Inheritance in Man (OMIM)
PubMed

Scientific Articles on PubMed

Scientific research on the PPP2R5D gene and its regulatory role has provided important insights into various genetic conditions and diseases. This gene, also known as the protein phosphatase 2 regulatory subunit B’, is involved in the development and function of many cellular processes.

Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive catalog of human genes and genetic diseases. It serves as a valuable resource for researchers, healthcare professionals, and individuals interested in understanding the genetic basis of various conditions.

Within OMIM, there is a dedicated section for genes and diseases related to the PPP2R5D gene. This gene is involved in the development and regulation of various cellular processes and has been linked to intellectual disability and other related conditions.

The OMIM database lists the PPP2R5D gene as well as its subunits and regulatory enzymes. It provides information on genetic variants and mutations associated with PPP2R5D-related diseases, along with references to scientific articles and resources for further research.

For individuals and families affected by PPP2R5D-related conditions, OMIM offers a wealth of information on diagnostic testing, health management, and available resources. It also provides a platform for collaboration and sharing of knowledge among researchers and healthcare professionals.

OMIM is not the only database that contains information on the PPP2R5D gene and related diseases. Additional resources, such as PubMed and other genetic databases, also contain relevant information on this gene and its associated conditions.

Overall, OMIM serves as a comprehensive catalog of genes and diseases, providing valuable information on the PPP2R5D gene and its related conditions. It is a vital resource for researchers, clinicians, and individuals seeking information on genetic variants, mutations, and health management strategies for PPP2R5D-related disorders.

Gene and Variant Databases

There are several gene and variant databases that provide valuable information on the PPP2R5D gene and PPP2R5D-related variants. These databases serve as registries and catalogs of genetic changes and mutations associated with the PPP2R5D gene and the related conditions.

One of the primary databases for PPP2R5D gene and variant information is OMIM (Online Mendelian Inheritance in Man). OMIM provides comprehensive information on the genetic basis of various diseases and conditions, including intellectual disability and developmental delay. The database lists the different names used for the PPP2R5D gene and provides references to relevant scientific articles and resources.

Another important resource is PubMed, a database of scientific articles and references. PubMed contains a wealth of information on the PPP2R5D gene and its involvement in various diseases and conditions. It allows users to search for specific keywords and access relevant articles and studies on the gene.

In addition to these databases, there are other gene and variant databases that focus on PPP2R5D-related conditions and genes. These databases provide additional information on the genetic changes and mutations associated with the PPP2R5D gene and related proteins and subunits.

Some of these databases include the Phosphate for Health Database, which provides information on genes involved in phosphate regulation, and the Epub database, which catalogs various genes and their involvement in intellectual disability and developmental delay. These databases often provide detailed information on specific mutations and their effects on gene function.

Overall, gene and variant databases are essential resources for researchers and clinicians studying the PPP2R5D gene and its role in intellectual disability and developmental delay. They provide valuable information on the genetic changes and mutations associated with the gene and help advance our understanding of the conditions related to PPP2R5D.

References

scientific information on the PPP2R5D gene and related diseases can be found in the online Mendelian Inheritance in Man (OMIM) database https://www.omim.org/entry/615528.
A registry of individuals with PPP2R5D mutations and related intellectual disability is available at https://www.ppp2r5dregistry.org/.
The Catalog of Human Genes and Genetic Disorders (OMIM) provides additional information on the genetic changes involved in PPP2R5D-related intellectual disability and related disorders. It can be accessed at https://omim.org/.
The National Center for Biotechnology Information (NCBI) provides access to a wide range of scientific articles on PPP2R5D and related genes and diseases. PubMed, a database of such articles, can be accessed at https://pubmed.ncbi.nlm.nih.gov/.
The Genetic Testing Registry (GTR) provides information on available genetic tests for PPP2R5D-related intellectual disability and related disorders. It can be accessed at https://www.ncbi.nlm.nih.gov/gtr/.
The Online Mendelian Inheritance in Man (OMIM) database also provides a list of other genes encoding the subunits of the PPP2R5D enzyme. This can be found at https://www.omim.org/entry/615528#gene-map.