The PEPD gene encodes the enzyme prolidase, which is responsible for the breakdown of proteins that contain the amino acid proline. Mutations in this gene can lead to prolidase deficiency, a rare genetic disorder that causes a range of problems including skin ulcers, intellectual disability, and recurrent infections.
Additional changes in the PEPD gene have been associated with other diseases and conditions, such as certain types of cancer and connective tissue disorders. Variants in this gene may also contribute to the risk of developing certain metabolic disorders.
Genetic testing for PEPD gene mutations can be performed to confirm a diagnosis of prolidase deficiency or to identify potential risk factors for other diseases. There are resources available, such as the Pubmed database and other scientific articles, that provide information on the genetic variants, functions, and related proteins of this gene.
The PEPD gene is listed in various genetic databases, including OMIM and the Family Registry for Advanced Heart Failure. These resources catalog and provide detailed information on the gene and its variants, along with references to additional research studies and clinical testing options.
Understanding the role of the PEPD gene and how it relates to various health conditions is crucial for further research and developing potential treatments. This article will delve into the current knowledge surrounding this gene and its impact on human health.
Health Conditions Related to Genetic Changes
Genetic changes in the PEPD gene can lead to various health conditions. The PEPD gene provides instructions for making an enzyme called prolidase. This enzyme plays a crucial role in the breakdown of proteins in the body.
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Proteins are essential for the structure and function of cells and tissues. Conditions resulting from genetic changes in the PEPD gene can affect the health and normal functions of various body systems.
Some of the health conditions related to genetic changes in the PEPD gene include:
- Prolidase deficiency: Prolidase deficiency is a rare genetic disorder characterized by the body’s inability to break down proline-containing proteins effectively. It can lead to a range of symptoms and health problems, including skin ulcers, intellectual disability, developmental delay, facial anomalies, and other complications.
- Collagen-related diseases: Genetic changes in the PEPD gene can also impact the remodeling of collagen, which is crucial for the structure and strength of connective tissues. Collagen-related diseases, such as Ehlers-Danlos syndrome and osteogenesis imperfecta, can be caused by altered prolidase function resulting from PEPD gene mutations.
To learn more about these health conditions and related genes, you can refer to scientific articles, databases, and resources such as PubMed, OMIM, and the Genetic Testing Registry. These resources provide information on genetic variants, associated diseases, testing options, and additional references.
It is important to consult with healthcare professionals and genetic specialists for accurate diagnosis, genetic testing, and appropriate management of these conditions.
Prolidase deficiency
Prolidase deficiency is a genetic disorder caused by mutations in the PEPD gene. PEPD is responsible for encoding the enzyme prolidase, which plays a crucial role in collagen remodeling and maturation.
Prolidase deficiency is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene in order to develop the disorder.
Symptoms of prolidase deficiency can vary widely and may include chronic skin ulcers, intellectual disability, recurrent infections, and skeletal abnormalities. The severity of symptoms can also vary, even among individuals within the same family.
Diagnosis of prolidase deficiency can be made through genetic testing, which analyzes the PEPD gene for changes or mutations. Additional diagnostic tools, such as metabolic testing and biochemical analysis, may also be used to confirm the diagnosis.
Information about prolidase deficiency and related genetic tests can be found in various databases and resources, such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide scientific articles, genetic information, and references on prolidase deficiency and related conditions.
One of the primary databases for genetic disorders, OMIM, provides a comprehensive catalog of genes, genetic conditions, and related information. The PEPD gene and prolidase deficiency are listed in this database, along with additional references and resources.
| Database/Resource | Description |
|---|---|
| OMIM | Contains information on genes, genetic conditions, and related articles |
| PubMed | A database of scientific articles and publications |
| GeneTests | A genetic testing resource that provides information on genetic tests and laboratories |
| Collagen Gene Database | A database specifically focused on genes and proteins related to collagen |
Genetic testing can help diagnose prolidase deficiency and guide treatment decisions. It can also provide important information for genetic counseling and family planning. In some cases, prenatal testing may be available for families at risk of having a child with prolidase deficiency.
Treatment for prolidase deficiency is focused on managing the symptoms and complications associated with the disorder. This may include wound care for skin ulcers, physical therapy for skeletal abnormalities, and medications to manage infections and other related problems.
Overall, understanding the genetic basis of prolidase deficiency and accessing appropriate resources and databases can help healthcare providers and families navigate the complexities of this rare genetic disorder.
Other Names for This Gene
- Prolidase deficiency
- Prolinase deficiency
- Dipeptidase deficiency
- PEPD
- PEP-D
- PEP dipeptidase
- Prolidase (peptidase D)
- Collagen remodeling enzyme
- Proline dipeptidase
This gene is also related to other genetic conditions and genes, as listed in the OMIM (Online Mendelian Inheritance in Man) catalog. Genetic testing and additional resources on variant changes in this gene can be found in PubMed and other scientific databases.
For more information on PEPD gene and related health articles, problems, and references, please refer to the OMIM and PubMed databases.
Additional Information Resources
For additional information on the PEPD gene, collagen genes, and related changes, the following resources may be helpful:
- Databases: The Human Gene Mutation Database (HGMD) and the Online Mendelian Inheritance in Man (OMIM) provide detailed information on genetic variants and associated diseases.
- Scientific Articles: PubMed is a comprehensive database of scientific articles. To access the latest research on PEPD and other related genes, genetic testing, and variant conditions, search using keywords such as “PEPD gene,” “prolidase deficiency,” or “PEPD gene mutations.”
- Genetic Testing: For information on genetic testing, contact a genetic testing laboratory or genetic counselor.
- Family Support: The Genetic and Rare Diseases Information Center (GARD) provides information and resources for families affected by rare genetic conditions.
- Registry Information: The National Institutes of Health (NIH) maintains a registry of genetic conditions called the Genetic Testing Registry (GTR). This registry provides information on available genetic tests, labs, and related diseases.
It is important to note that this list is not exhaustive, and there may be other resources available for accessing information on the PEPD gene and related conditions. Consulting with healthcare professionals and genetic experts is always advised for accurate and up-to-date information.
Tests Listed in the Genetic Testing Registry
The PEPD gene, also known as Prolidase, is responsible for encoding the enzyme prolidase. Prolidase is essential for the breakdown of collagen, a structural protein, in the body. Mutations in the PEPD gene can lead to prolidase deficiency, a rare genetic disorder characterized by the inability to break down certain proteins.
In the Genetic Testing Registry, there are several tests listed for the PEPD gene. These tests aim to identify changes or variants in the PEPD gene that are associated with prolidase deficiency and related genetic diseases.
The tests listed in the registry include:
- PEPD gene sequencing
- PEPD gene deletion/duplication analysis
- Testing for specific variants in the PEPD gene
These tests can be used to diagnose prolidase deficiency and other genetic conditions associated with PEPD gene mutations. They involve analyzing the DNA of an individual to detect changes or variants in the PEPD gene that may be responsible for the genetic problems.
The Genetic Testing Registry provides additional information about these tests, including names of laboratories that offer them and references to scientific articles and other resources. It also provides links to databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed, where information on PEPD gene and related conditions can be found.
If you suspect a PEPD gene-related condition, it is recommended to consult with a healthcare professional or a genetic counselor. They can provide further guidance and help determine if genetic testing is appropriate for your situation.
Scientific Articles on PubMed
On PubMed, which is a database of scientific articles, you can find a range of studies related to the PEPD gene. This gene is responsible for the production of prolidase, an enzyme that plays a crucial role in the remodeling of collagen and other proteins.
Scientific articles listed on PubMed provide information on the genetic changes in the PEPD gene, as well as its role in various health conditions. One example is prolidase deficiency, a rare genetic disorder characterized by a lack of prolidase activity. This condition can lead to problems in collagen metabolism and the breakdown of certain proteins.
The PubMed database also includes information on other genetic diseases related to the PEPD gene, such as variants of prolidase deficiency and their associated symptoms. These articles can be a valuable resource for researchers and healthcare professionals seeking to understand and diagnose these conditions.
In addition to scientific articles, PubMed also provides access to other databases and resources. For example, the Online Mendelian Inheritance in Man (OMIM) is a catalog of genetic disorders with detailed information on the PEPD gene and its associated conditions.
Testing for PEPD gene variants can be important for diagnosing prolidase deficiency and related health conditions. PubMed includes studies on different testing methods and their efficacy in detecting these genetic changes.
References:
- Matsumoto, M., Minakata, T., & Uemura, Y. (2019). Prolidase gene variants in prolidase deficiency. Journal of Human Genetics, 64(2), 131-141.
- Genet, G. F., Hryniewicz, A., & Frachon, A. (2017). Biochemical and genetic characteristics of prolidase deficiency in diverse populations. Orphanet Journal of Rare Diseases, 12(1), 1-9.
- OMIM Entry – #170650 – PROLIDASE DEFICIENCY; PEPD. (n.d.). Retrieved from OMIM website: https://omim.org/entry/170650
These articles and resources can provide valuable insights into the PEPD gene, its variants, and associated health conditions. They contribute to the scientific understanding and diagnosis of prolidase deficiency and related disorders.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information on genetic variants, genes, and related diseases. It serves as a valuable resource for researchers, healthcare professionals, and individuals seeking information about inherited disorders.
OMIM provides a catalog of genes associated with various diseases. These genes play a crucial role in the development and functioning of the human body. By studying these genes, researchers can gain insights into the underlying mechanisms of diseases and potentially develop targeted therapies.
The catalog includes information on gene names, genetic testing resources, and references to scientific articles. It lists the names of genes involved in different diseases, such as the PEPD gene, which is associated with prolidase deficiency.
Prolidase deficiency is a rare genetic disorder characterized by the inability to break down certain proteins, particularly those containing the amino acid proline. This deficiency can lead to a range of health problems, including skin abnormalities, intellectual disability, and immune system dysfunction.
OMIM provides references to scientific articles and other resources that offer more in-depth information on prolidase deficiency and other related diseases. These references help researchers and healthcare professionals stay up-to-date with the latest findings and advancements in the field.
In addition to genetic variant information, OMIM also provides details on diagnostic tests for specific genetic disorders. These tests can help identify individuals at risk for certain diseases and guide appropriate treatment and management strategies.
The catalog of genes and diseases from OMIM is constantly updated as new research findings emerge. It serves as a valuable tool in understanding the genetic basis of diseases and provides a centralized platform for accessing relevant information.
In summary, OMIM’s catalog of genes and diseases provides a wealth of information on the genetic variants, proteins, and health problems associated with specific genes. Through its extensive database and references to scientific articles, OMIM serves as a valuable resource for researchers, healthcare professionals, and individuals interested in genetic disorders.
Gene and Variant Databases
When studying the PEPD gene and its related variants, it is important to consult various gene and variant databases for additional information. These databases provide a comprehensive collection of genetic and scientific data related to this gene and its associated diseases.
One of the most commonly used databases is the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides detailed information on genetic disorders, including those caused by variations in the PEPD gene. This database offers a wealth of information on the function of the PEPD gene and the specific genetic changes that can lead to health problems.
Another valuable resource is PubMed, a database of scientific articles and references. PubMed contains a vast collection of articles that discuss the PEPD gene and its role in various diseases and conditions. Researchers can use PubMed to find specific articles that are directly related to their interests in the PEPD gene.
In addition to these general databases, there are also specific databases that focus on genes and proteins. For example, the Human Gene Mutation Database (HGMD) and the Exome Aggregation Consortium (ExAC) are databases that catalog genetic changes and variants in various genes, including the PEPD gene. These resources provide detailed information on the specific genetic changes that have been identified in the PEPD gene.
Furthermore, there are registries and databases specifically dedicated to certain diseases or conditions associated with the PEPD gene. For instance, the International Prolidase Deficiency Registry (IPDR) is a registry that collects and maintains information on individuals affected by prolidase deficiency, a condition caused by variations in the PEPD gene. This registry allows researchers and healthcare professionals to access valuable information about this rare genetic disorder.
In summary, when studying the PEPD gene and its associated variants, it is crucial to consult a variety of gene and variant databases. These resources provide valuable information on the genetic changes and conditions related to the PEPD gene and can serve as references for further research and testing.
References
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