ACP5 gene – Austra Health

The ACP5 gene encodes a protein called tartrate-resistant acid phosphatase 5 (TRAP5A). This gene is primarily active in immune cells and is involved in the regulation of osteoclast activity and bone remodeling.

Changes in the ACP5 gene have been associated with various health conditions and abnormalities. One variant of this gene has been linked to spondyloenchondrodysplasia with immune dysregulation (SPENCDI), a rare genetic disorder characterized by skeletal abnormalities and immune system dysfunction.

Information on the ACP5 gene, its function, and its role in diseases can be found in scientific articles, databases, and resources such as OMIM (Online Mendelian Inheritance in Man). Testing for genetic changes in the ACP5 gene may be available through genetic testing laboratories and can provide additional information for diagnosis and management of related conditions.

References and related articles on the ACP5 gene can be found in PubMed, a comprehensive database of scientific publications. The Catalog of Genes and Diseases (OMIM) is also a valuable resource for information on genes, genetic changes, and associated diseases.

Health Conditions Related to Genetic Changes

Genetic changes in the ACP5 gene, also known as the tartrate-resistant acid phosphatase 5 gene, have been found to be associated with several health conditions. This gene provides instructions for making a protein called acid phosphatase 5, which is involved in bone remodeling and immune system activity.

Changes in the ACP5 gene can cause abnormalities in the production or activity of acid phosphatase 5, leading to dysregulation of bone remodeling and immune responses. This dysregulation can impair the proper functioning of the immune system and the development and maintenance of healthy bones.

One specific health condition related to genetic changes in the ACP5 gene is spondyloenchondrodysplasia with immune dysregulation (SPENCDI). Individuals with SPENCDI may experience skeletal abnormalities, immune system dysregulation, and other associated medical problems.

Genetic testing for changes in the ACP5 gene can help identify individuals with SPENCDI or other related health conditions. This testing can be done using a variety of methods, including sequencing the gene to identify specific genetic changes or analyzing acid phosphatase 5 activity levels in the blood.

Additional information on health conditions related to genetic changes in the ACP5 gene can be found in scientific articles and databases. The Online Mendelian Inheritance in Man (OMIM) database and PubMed are two commonly used resources for finding information on the genetic basis of diseases and abnormalities.

In addition to the ACP5 gene, other genes and genetic changes may also be associated with these health conditions. The Catalog of Human Genetic Variants (GCV) and other databases list the names and related information on genes and variants associated with various diseases.

References to scientific articles and other sources of information on health conditions related to genetic changes in the ACP5 gene can provide further details for interested individuals.

Spondyloenchondrodysplasia with immune dysregulation

Spondyloenchondrodysplasia with immune dysregulation is a rare genetic disorder primarily caused by mutations in the ACP5 gene. This gene encodes tartrate-resistant acid phosphatase, which is an enzyme involved in bone remodeling. Variants in the ACP5 gene impair the activity of tartrate-resistant acid phosphatase, leading to abnormalities in bone development and immune dysregulation.

Patients with spondyloenchondrodysplasia with immune dysregulation often present with skeletal abnormalities including short stature, abnormal curvature of the spine (scoliosis), and changes in the shape of the bones. Additionally, they may experience immune dysregulation, which can manifest as autoimmune disorders, recurrent infections, and other immune-related conditions.

Genetic testing, such as sequencing the ACP5 gene, can confirm a diagnosis of spondyloenchondrodysplasia with immune dysregulation. Other diagnostic tests may include measuring the activity of tartrate-resistant acid phosphatase or analyzing osteopontin levels.

Information and resources related to spondyloenchondrodysplasia with immune dysregulation can be found in various online databases and scientific articles. The Online Mendelian Inheritance in Man (OMIM) catalog provides information on genes, genetic variations, and associated diseases. PubMed is a database of scientific publications that may contain articles on spondyloenchondrodysplasia with immune dysregulation. Additionally, there are registries and health organizations that provide additional information and support for individuals with this condition.

Further research is ongoing to better understand the specific changes in the ACP5 gene that lead to spondyloenchondrodysplasia with immune dysregulation. This knowledge can potentially lead to improved diagnostic tests and therapeutic approaches for patients with this rare disease.

References:

GeneReviews: Spondyloenchondrodysplasia with Immune Dysregulation
Online Mendelian Inheritance in Man (OMIM) catalog
PubMed

Other Names for This Gene

Osteopontin-Related Changes in Bone Remodeling: Changes in the activity of the acp5 gene primarily affect bone remodeling and can lead to abnormalities in bone structure.
Spondyloenchondrodysplasia with Immune Dysregulation: Changes in the acp5 gene can cause immune dysregulation conditions, such as spondyloenchondrodysplasia.
Tartrate-Resistant Acid Phosphatase 5a: ACP5 is also known as TRAP5a, which is the primarily active variant of the gene.
ACP5 Gene Testing: Genetic tests can be conducted to identify changes or impairments in the ACP5 gene, providing valuable information for diagnosing and managing related diseases.
OMIM Gene Registry: The ACP5 gene is listed in the Online Mendelian Inheritance in Man (OMIM) gene registry, which catalogs genes associated with genetic diseases and conditions.
Additional Names: Other names for the ACP5 gene include TRAP, TRACP, and TRACP-5b.

Additional Information Resources

Here are some additional resources that can provide more information on the ACP5 gene and its related conditions:

OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genetic diseases. You can find detailed information on the ACP5 gene and related conditions by searching for “ACP5” or “spondyloenchondrodysplasia” in the OMIM database.
PubMed: PubMed is a database of scientific articles and publications. Searching for “ACP5 gene” or “spondyloenchondrodysplasia” in PubMed can provide you with scientific articles and studies related to the gene and its associated conditions.
Genetic Testing Registry: The Genetic Testing Registry (GTR) offers information about genetic tests and laboratories that offer testing for specific genes. You can find information on available tests for the ACP5 gene and related conditions in the GTR.

In addition to these databases, there are other resources available that can provide more information on the ACP5 gene and related conditions:

Osteopontin: Osteopontin is a protein that is involved in bone remodeling and immune response. The dysregulation of the ACP5 gene can cause changes in osteopontin activity, leading to abnormalities in bone health.
Tartrate-Resistant Acid Phosphatase 5a (TRAP5a): ACP5 is also known as TRAP5a, and variants in this gene can impair the activity of TRAP5a. Changes in TRAP5a activity can lead to abnormal bone remodeling and related health issues.
Related Diseases and Conditions: Spondyloenchondrodysplasia is a condition primarily caused by changes in the ACP5 gene. However, there may be other genetic and immune dysregulation factors related to this condition. It is important to consider these additional factors when studying and testing for spondyloenchondrodysplasia and related conditions.

For more information and references on the ACP5 gene and related conditions, please refer to the scientific articles and resources listed in the above databases.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a catalog of genetic tests and their associated information. It provides a comprehensive database of tests available for a variety of genetic conditions.

One test listed in the GTR is the ACP5 gene test. This test is primarily related to changes in the ACP5 gene, which is also known as tartrate-resistant acid phosphatase 5 gene. Variants in this gene can cause dysregulation of bone remodeling activity, leading to immune and skeletal abnormalities. The ACP5 gene is primarily associated with spondyloenchondrodysplasia with immune dysregulation (SPENCDI).

The GTR provides additional references and resources for further information on the ACP5 gene and other related genes. These resources include articles from PubMed and OMIM, as well as databases and health-related websites. The GTR also includes information on the specific tests available for the ACP5 gene, including their names and testing methods.

Other tests listed in the GTR are primarily related to changes in osteopontin (SPP1), another gene involved in bone remodeling activity. These tests are associated with conditions such as osteoporosis, skeletal dysplasias, and other bone-related diseases.

In summary, the Genetic Testing Registry is a valuable resource for information on genetic tests. The registry provides information on tests related to the ACP5 gene, osteopontin, and other genes primarily involved in bone remodeling activity and immune dysregulation. It includes references, databases, and additional resources for further research and testing.

Scientific Articles on PubMed

The ACP5 gene, also known as tartrate-resistant acid phosphatase type 5, is responsible for encoding an enzyme involved in bone remodeling. Abnormalities in this gene can cause various skeletal abnormalities and immune system dysregulation primarily related to spondyloenchondrodysplasia and other bone diseases.

The ACP5 gene has been extensively studied, and numerous scientific articles are available on PubMed, a comprehensive database of biomedical literature. Researchers have investigated the role of ACP5 in bone remodeling, immune system function, and other related areas.

With the use of genetic testing and sequencing technologies, researchers have identified variants and changes in the ACP5 gene that impair its activity. These changes have been associated with a range of conditions, including spondyloenchondrodysplasia and other genetic diseases affecting bones and the immune system.

Additional information about the ACP5 gene can be found in the OMIM database, which catalogs genetic diseases and their associated genes. OMIM provides comprehensive information on the ACP5 gene, including its function and potential implications for health.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic diseases. It provides a valuable resource for researchers, health professionals, and individuals seeking information about genetic conditions.

OMIM includes information on genes that cause or contribute to various diseases, including spondyloenchondrodysplasia with immune dysregulation (ACP5 gene). The database lists the ACP5 gene as a cause for this condition, which primarily impairs immune system activity and leads to changes in bone remodeling. The abnormal activities of this gene can cause spondyloenchondrodysplasia with immune dysregulation and other related abnormalities.

OMIM provides additional resources such as references to scientific articles and databases where further information can be found. For example, the OMIM entry for the ACP5 gene includes references to articles related to the genetic testing, health conditions associated with ACP5 gene changes and impairments, and other related genes and genetic diseases.

OMIM also offers a registry of genetic testing laboratories that offer tests for specific genes and diseases. This can be useful for individuals seeking genetic testing to determine if they have certain gene changes or the presence of specific diseases.

OMIM Resources:
OMIM Entry	Resource
ACP5 gene	OMIM entry
Spondyloenchondrodysplasia with immune dysregulation	OMIM entry
Genetic testing laboratories	OMIM genetic testing laboratories

OMIM is an essential resource for understanding the genetic basis of diseases and providing valuable information for health professionals and individuals seeking information about specific genes and disorders. The catalog continues to grow as new research emerges and offers a comprehensive and up-to-date source of information for the scientific community and the general public alike.

Gene and Variant Databases

Gene and variant databases play a crucial role in understanding the genetic basis of various conditions and diseases. These databases provide comprehensive information about genes and their variants, helping researchers, clinicians, and the general public access valuable data for diagnostic, therapeutic, and research purposes.

One such database is the Online Mendelian Inheritance in Man (OMIM) database, which is a comprehensive catalog of genes associated with genetic conditions. OMIM provides detailed information on genes, genetic variations, and the diseases or conditions they cause. For instance, the ACP5 gene, also known as tartrate-resistant acid phosphatase 5, is listed in OMIM with associated conditions such as spondyloenchondrodysplasia and immune dysregulation.

Another valuable resource is the PubMed database, which contains a vast collection of scientific articles related to genes, variants, and their implications in various diseases. Researchers can access articles that discuss the role of the ACP5 gene in bone remodeling, immune responses, and other biological processes.

Gene and variant databases also provide additional resources, such as genetic testing information. These databases list the names of tests available for specific genes and variants, along with references to scientific articles and related resources. This allows clinicians and individuals to access information about available diagnostic tests and interpret the results in the context of specific conditions.

Furthermore, gene and variant databases are essential in identifying novel genetic changes and understanding their impact on health. They serve as a registry for genetic abnormalities and help researchers identify genes that may be involved in certain diseases. For example, the ACP5 gene is implicated in the dysregulation of osteopontin, which plays a crucial role in bone remodeling.

In conclusion, gene and variant databases provide a wealth of information on genes, variants, and their implications in various diseases and conditions. These databases serve as valuable resources for researchers, clinicians, and individuals seeking information about genetic testing, diagnostic tests, and the genetic basis of diseases. They play a vital role in advancing our understanding of the genetic factors underlying health and disease.

References

ACP5 gene – Osteopontin. (n.d.). Retrieved from OMIM database: https://omim.org/entry/171640
ACT5 gene – Additional information. (n.d.). Retrieved from Genetics Home Reference: https://ghr.nlm.nih.gov/gene/ACP5
ACT5 gene – Dysregulation and diseases. (n.d.). Retrieved from NCBI Gene database: https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=54
ACT5 gene – Genetic testing and registry. (n.d.). Retrieved from GeneTests GeneReviews: https://www.ncbi.nlm.nih.gov/sites/GeneTests/review/rec_review.cgi?pt=ACP5
ACT5 gene – Scientific articles and publications. (n.d.). Retrieved from PubMed database: https://pubmed.ncbi.nlm.nih.gov/?term=ACP5