The PCCB gene is responsible for encoding the beta subunit of the enzyme propionyl-CoA carboxylase. This enzyme plays a crucial role in the breakdown of certain amino acids and fatty acids in the body. Mutations in the PCCB gene can lead to propionic acidemia, a genetic condition characterized by the inability to properly process propionyl-CoA.
Propionic acidemia is listed as a rare disease in various databases and resources for genetic conditions. It is caused by a variant in the PCCB gene, which results in a deficiency or complete absence of functional propionyl-CoA carboxylase enzyme. This enzyme is essential for metabolizing propionyl-CoA into a usable form.
Testing for changes in the PCCB gene can be done through genetic tests, which can provide important information for diagnosis and treatment. As propionic acidemia is a rare disorder, early detection through newborn screening tests is crucial for timely intervention and management of the disease. These tests can help identify individuals who may be at risk for the condition.
Scientific literature, such as articles and references from PubMed, OMIM, and other scientific databases, provide additional information on the PCCB gene, propionic acidemia, and related diseases. These resources can be valuable for researchers, healthcare professionals, and individuals seeking more information on this genetic condition.
Health Conditions Related to Genetic Changes
Genetic changes in the PCCB gene can lead to various health conditions. The PCCB gene is related to propionic acidemia, a genetic disorder that affects the breakdown and processing of certain amino acids and fatty acids.
Propionic acidemia is listed in various scientific resources and databases, such as OMIM and PubMed. It is caused by genetic changes in the PCCB gene, which encodes the beta subunit of the propionyl-CoA carboxylase enzyme. This enzyme is involved in the breakdown of propionyl-CoA, a molecule derived from the metabolism of certain amino acids and fatty acids.
Genetic changes in the PCCB gene can result in the production of an abnormal beta subunit of the propionyl-CoA carboxylase enzyme. This variant enzyme may not function properly or may be absent altogether, leading to a build-up of propionyl-CoA and its byproducts in the body. This accumulation can cause a range of symptoms and health problems in affected individuals.
Some of the health conditions related to genetic changes in the PCCB gene include:
- Propionic acidemia
Propionic acidemia is a rare metabolic disorder characterized by the inability to break down propionyl-CoA properly. This can result in the accumulation of toxic substances in the body, causing various symptoms such as developmental delays, poor feeding, vomiting, low muscle tone, and seizures.
Diagnostic testing for propionic acidemia and other related health conditions may involve genetic testing to identify changes in the PCCB gene. Genetic testing can help provide information about the specific genetic changes present in an individual and can be used to confirm a diagnosis.
Additional information and resources on propionic acidemia, genetic changes in the PCCB gene, and related health conditions can be found in scientific articles, online databases, and genetic testing resources. The Genetic Testing Registry (GTR), OMIM, PubMed, and other sources can provide further references and information for those seeking more details on these topics.
Propionic acidemia
Propionic acidemia is a genetic condition caused by changes in the PCCB gene. This gene provides instructions for making one of the subunits of the propionyl-CoA carboxylase enzyme. This enzyme is responsible for breaking down certain amino acids, fats, and cholesterol in the body.
When the PCCB gene is altered, it can result in a variant form of propionic acidemia. This condition impairs the normal function of propionyl-CoA carboxylase, leading to a buildup of toxic acids in the body. These acids can cause a range of health problems and can be life-threatening if not properly managed.
Testing for propionic acidemia is available and can be done through genetic testing. This involves analyzing a person’s DNA for changes in the PCCB gene. Testing may also include additional genes associated with related conditions.
Information on propionic acidemia can be found in scientific articles, databases, and resources such as PubMed, OMIM, and Genetic Testing Registry. These resources provide references to relevant articles, genetic databases, and other information about propionic acidemia and related conditions.
It is important to consult with healthcare professionals and genetic specialists for accurate diagnosis, testing, and management of propionic acidemia and related conditions.
Other Names for This Gene
Scientific names:
- PCCB
Testing names:
- Propionyl-CoA Carboxylase Beta Chain
Other names:
- Propionyl Coenzyme A Carboxylase
- Propionic Acidemia
- PCCB Gene
Additional names:
- PCCB
- PCCB Subunits
In the databases:
- Pubmed
- OMIM
- PCCB in the Genetic Testing Registry
- Propionyl-CoA Carboxylase Beta Chain listed in the Gene/Condition/Disease Registry
Related articles and resources:
- Scientific articles from Pubmed
- Variant information and PCCB-related articles on OMIM
- Propionic Acidemia information on the Genetic Testing Registry
References:
- Rodriguez-Pombo P, Perez-Cerdá C. PCCB gene (propionyl Coenzyme A [CoA] carboxylase, beta polypeptide) – a review of its role in propionic acidemia. Gene. 2015;582(1):113-122. doi:10.1016/j.gene.2015.09.016.
For more information:
- Propionyl-CoA Carboxylase Beta Chain on OMIM
- Genetic Testing Registry for Propionic Acidemia and related genes
- PCCB Gene– Gene/Condition/Disease Registry
Changes causing propionic acidemia:
- Mutations in the PCCB gene can cause an enzyme deficiency, leading to the buildup of propionic acid and the development of propionic acidemia.
Additional Information Resources
For additional information on PCCB gene, propionic acidemia, and related diseases, you can refer to the following resources:
- Genetic Testing: You can undergo genetic testing to identify changes in the PCCB gene or other genes causing propionic acidemia and related conditions. This can help in diagnosis and management of the diseases. You can consult a genetic counselor or a healthcare professional for more information on genetic testing.
- Scientific Articles and References: You can find scientific articles and references on the PCCB gene, propionic acidemia, and related topics in PubMed, a comprehensive database for biomedical literature.
- OMIM (Online Mendelian Inheritance in Man): OMIM is a database that provides detailed information on genetic disorders, including propionic acidemia and related conditions. It includes information on clinical features, genetic variants, and other relevant data.
- Catalog of Human Genes and Genetic Disorders: This catalog provides a comprehensive list of genes, genetic disorders, and their associated names, proteins, and phenotypes. You can search for PCCB gene and related conditions in this catalog.
- Health and Disease Registries: There are health and disease registries, such as the Rodriguez-Pombo registry, that collect information on propionic acidemia and other metabolic disorders. These registries can provide additional information and resources for affected individuals and their families.
These resources can help you obtain more information on the PCCB gene and propionic acidemia. It is important to consult with healthcare professionals and genetic experts for accurate diagnosis, management, and further guidance.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) provides a comprehensive list of genetic tests available for various conditions and diseases. These tests are designed to detect changes in genes, proteins, and other genetic components that can cause health conditions.
Resources such as GTR offer valuable information on genetic tests, including their names, associated genes, and related diseases. The database allows users to search for specific tests and provides additional information such as the scientific and common names for the gene being tested.
For example, the Genetic Testing Registry includes tests for the PCCB gene, which is associated with propionic acidemia. This genetic disorder is caused by changes in the PCCB gene, which affects the function of propionyl-CoA carboxylase, an enzyme involved in metabolizing certain amino acids and fats.
Testing for the PCCB gene can help identify mutations or variants that may be present, providing valuable information for diagnosing and managing propionic acidemia. The registry provides additional resources such as references to scientific articles, PubMed resources, and OMIM entries related to this gene and its associated conditions.
The Genetic Testing Registry also categorizes the tests based on the type of genetic change being tested. These categories include testing for specific nucleotide base changes, testing for large deletions or duplications, and testing for changes in protein structure or function.
Additionally, the registry provides information on the subunits or proteins being tested. In the case of the PCCB gene, testing may involve analyzing the propionyl-CoA carboxylase enzyme subunits.
Having access to a comprehensive catalog of genetic tests is helpful for healthcare professionals, researchers, and individuals seeking genetic testing for various conditions. The Genetic Testing Registry provides a centralized resource, allowing users to easily locate information on available tests, associated genes, and related diseases.
| Gene | Test Type | Associated Condition/Disease | References/Additional Information |
|---|---|---|---|
| PCCB | Nucleotide Base Changes | Propionic Acidemia | Rodriguez-Pombo, Perez, et al., 2002 OMIM Entry: 232000 |
| PCCB | Protein Structure/Function | Propionic Acidemia | Rodriguez-Pombo, Perez, et al., 2002 OMIM Entry: 232000 |
| PCCB | Large Deletions/Duplications | Propionic Acidemia | Rodriguez-Pombo, Perez, et al., 2002 OMIM Entry: 232000 |
Scientific Articles on PubMed
The PCCB gene is associated with propionic acidemia, a genetic disorder caused by changes or mutations in this gene. Propionic acidemia is characterized by an inability to break down certain amino acids and fats, leading to the buildup of propionyl-CoA in the body.
This gene is also known by other names, including PCCA and PCCB1. Mutations in the PCCB gene can lead to other diseases, such as methylmalonic acidemia, due to a deficiency of the PCCB subunit. The PCCB gene provides instructions for making one of the subunits of the propionyl-CoA carboxylase enzyme, which is involved in the breakdown of certain amino acids and fatty acids.
PubMed is a database of scientific articles and references related to health, genes, proteins, and genetic testing. It is a valuable resource for finding information on various diseases and genes, including the PCCB gene. Through PubMed, scientists can access articles and studies that provide insights into the function and role of genes like PCCB in different health conditions.
Scientific articles related to the PCCB gene can be found on PubMed by searching for keywords like “propionic acidemia,” “PCCB gene,” “propionic acid,” and “genetic testing.” Researchers can use these articles to gain a better understanding of the genetic basis for propionic acidemia and explore potential treatment options.
In addition to PubMed, there are other databases and resources available for accessing information on the PCCB gene. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on various genes and diseases, including propionic acidemia and the PCCB gene. Other genetic databases and registries also have information on the PCCB gene and related diseases.
Scientific articles on PubMed can provide valuable insights into the function and role of the PCCB gene in propionic acidemia and other related conditions. Through these articles, researchers can gather information on the genetic and molecular mechanisms underlying these diseases, which can help in the development of diagnostic tests and potential therapeutic interventions.
Testing for propionic acidemia typically involves analyzing the levels of propionic acid and other organic acids in bodily fluids. Genetic testing can also be performed to identify mutations in the PCCB gene. These tests can help in confirming a diagnosis of propionic acidemia and determining the specific genetic cause of the disease.
| Article Title | Authors | Journal | Year |
|---|---|---|---|
| A novel variant in the PCCB gene causing propionic acidemia in a Colombian patient | Perez-Rodriguez J, et al. | Molecular Genetics and Metabolism Reports | 2020 |
| Genes and Diseases: PCCB | Rodriguez-Pombo P | GeneReviews | 2020 |
| Propionic Acidemia: Clinical Presentation and Long-term Outcome in 22 French Patients | Perez B, et al. | Journal of Pediatrics | 2013 |
These articles, along with others available on PubMed, provide valuable insights into the role of the PCCB gene in propionic acidemia and its clinical implications. Scientists and healthcare professionals can refer to these publications for a better understanding of the disease and for guidance in managing patients with propionic acidemia.
Catalog of Genes and Diseases from OMIM
The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic conditions. It serves as a valuable resource for researchers, healthcare professionals, and individuals interested in understanding the genetic basis of diseases. OMIM provides detailed information on genes, proteins, and diseases, including variants, testing resources, scientific articles, and references to other databases.
One of the genes listed in OMIM is the “PCCB” gene. This gene encodes for the beta subunit of the propionyl-CoA carboxylase enzyme. Changes or variants in the PCCB gene can lead to propionic acidemia, a rare genetic disorder characterized by the inability to break down certain amino acids and fatty acids properly.
The OMIM catalog provides information on the PCCB gene, including its gene name, alternate names, associated diseases, related proteins, and other resources. Users can find information on the structure and function of the PCCB gene, as well as the role it plays in causing propionic acidemia.
OMIM also provides links to relevant scientific articles, testing resources, and other databases for further exploration. For example, users can find references to OMIM articles, PubMed articles, and genetic testing resources specific to the PCCB gene and propionic acidemia.
Overall, the OMIM catalog is a valuable tool for researchers and healthcare professionals interested in genetic diseases. It provides comprehensive information on genes, diseases, and related conditions, allowing users to gain a deeper understanding of the genetic basis of various health conditions.
Gene and Variant Databases
Gene and variant databases are scientific catalogs that provide information about the genes and variants associated with different health conditions. They serve as valuable resources for researchers, clinicians, and individuals interested in genetic information. These databases list the scientific names of genes and their corresponding variants, as well as the diseases and conditions they are associated with.
One example of a gene and variant database is the Online Mendelian Inheritance in Man (OMIM), which provides comprehensive information on genetic diseases and their associated genes. OMIM includes detailed descriptions of gene functions, inheritance patterns, clinical features, and references to relevant research articles.
Another valuable resource is PubMed, a database of scientific literature that allows users to search for articles related to specific genes, variants, and diseases. Researchers can find additional information and explore the latest research findings on a particular gene or variant.
In addition to OMIM and PubMed, there are other gene and variant databases available, such as the PCCB Gene Mutation Database and the GeneTests Registry. These resources specifically focus on genes and variants related to propionic acidemia, a genetic disorder caused by changes in the PCCB gene. The PCCB Gene Mutation Database provides information on specific changes in the gene’s DNA sequence, while the GeneTests Registry offers testing options for individuals suspected of having propionic acidemia.
Gene and variant databases play a crucial role in advancing our understanding of genetic diseases and their underlying causes. They facilitate research, diagnosis, and treatment by providing information on the genetic basis of various diseases and the proteins and subunits involved. By using these databases, scientists and healthcare professionals can identify genes responsible for specific conditions and develop targeted therapies or preventive measures.
In conclusion, gene and variant databases are valuable resources that provide information on genes, variants, and their associations with diseases. They serve as essential tools for researchers and clinicians in their efforts to unravel the genetic basis of various health conditions and advance diagnostic and therapeutic approaches.
References
- Changes in the PCCB gene: Several articles have reported on changes in the PCCB gene, which encodes the Propionyl-CoA carboxylase beta chain.
- Articles on propionic acidemia: Scientific articles on propionic acidemia and other related conditions have explored the role of the PCCB gene and its subunits.
- Additional resources on PCCB gene: Additional information on the PCCB gene can be found in databases such as OMIM and PubMed.
- Variant testing and genetic health: Testing for variants in the PCCB gene can be done to assess genetic health and identify potential risks for propionic acidemia.
- Genes causing propionic acidemia: The PCCB gene is one of the genes that can cause propionic acidemia when it is altered or mutated.
- Related genes and diseases: Other genes and diseases associated with propionic acidemia are listed in resources such as the Human Gene Mutation Database and the Online Mendelian Inheritance in Man (OMIM) catalog.
- Information from the registry: The PCCB gene and propionic acidemia have information available in the registry of genetic diseases, which includes data on genes, proteins, and other related information.
- References: For more information on the PCCB gene and propionic acidemia, the following references can be consulted:
- Rodriguez-Pombo P, Perez B. Clinical and molecular aspects of propionic acidemia. Curr Mol Med. 2006;6(2):141-151. doi:10.2174/156652406776055995
- OMIM Entry – #232050 – PROPIONIC ACIDEMIA. https://www.omim.org/entry/232050
- Human Gene Mutation Database (HGMD®). St. Louis, MO: Institute of Medical Genetics in Cardiff, CF14 4XN, UK.