The PCCA gene is responsible for encoding the alpha subunit of propionyl-CoA carboxylase, an enzyme that plays a critical role in the breakdown and utilization of certain amino acids and fatty acids in the body. Mutations in this gene can lead to a rare genetic disorder known as propionic acidemia.

Propionic acidemia is characterized by the inability of the body to properly process propionic acid, resulting in the buildup of toxic levels of this acid in the blood and tissues. This can lead to a wide range of symptoms, including developmental delays, seizures, poor appetite, and metabolic crises.

Scientific research on the PCCA gene has provided valuable insights into the molecular basis of propionic acidemia and has helped to guide the development of diagnostic tests and potential treatments for this condition. The PCCA gene is one of two genes involved in the production of propionyl-CoA carboxylase, with the PCCB gene encoding the beta subunit.

The PCCA gene is located on chromosome 13 and contains instructions for producing a protein that is essential for the function of propionyl-CoA carboxylase. Variants in this gene can disrupt the normal activity of the enzyme, leading to the accumulation of propionic acid and the associated symptoms of propionic acidemia.

Additional information on the PCCA gene can be found in the Online Mendelian Inheritance in Man (OMIM) database, which provides detailed genetic information on a wide range of human genes and genetic disorders. Other resources, such as PubMed and the Genetic Testing Registry, also provide references to scientific articles and testing information related to the PCCA gene and propionic acidemia.

Health Conditions Related to Genetic Changes

Genetic changes in the PCCA gene lead to various health conditions. One of the most well-known conditions associated with these changes is propionic acidemia (PA). PA is a rare genetic disorder characterized by the inability of the body to process certain proteins and fats properly. This leads to the buildup of toxic substances in the body, causing a range of symptoms and complications.

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The PCCA gene provides instructions for making one of the two subunits of the propionyl-CoA carboxylase enzyme. This enzyme is responsible for breaking down propionyl-CoA, a molecule involved in the breakdown of proteins and fats. Genetic changes in the PCCA gene can result in a deficiency or dysfunction of the propionyl-CoA carboxylase enzyme, leading to the symptoms of propionic acidemia.

To diagnose propionic acidemia, genetic testing can be done to identify changes in the PCCA gene. These tests can detect various types of genetic changes, including point mutations, deletions, insertions, and rearrangements. Different databases and resources, such as OMIM and PubMed, provide information on the genetic changes and associated health conditions.

Additionally, scientific articles and research papers can provide further insights into the effects of specific genetic changes in the PCCA gene. These articles often discuss the symptoms, treatment options, and prognosis associated with different variants of the gene.

In addition to propionic acidemia, genetic changes in the PCCA gene may be related to other health conditions. However, further research is needed to fully understand the implications of these changes.

The Rodriguez-Pombo Syndrome, for example, is a condition believed to be caused by a genetic change in the PCCA gene. This rare disorder is characterized by developmental delay, intellectual disability, facial dysmorphism, and other physical abnormalities.

A comprehensive catalog of genetic changes in the PCCA gene, along with their associated health conditions, is maintained by the PCCA gene variant database. This registry serves as a valuable resource for researchers, clinicians, and individuals affected by genetic changes in the PCCA gene.

In conclusion, genetic changes in the PCCA gene can lead to a variety of health conditions, with propionic acidemia being the most well-known. Genetic testing, resources like databases and scientific articles, and the PCCA gene variant registry provide valuable information on these changes and their associated health conditions.

Propionic acidemia

Propionic acidemia is a rare genetic disorder caused by mutations in the PCCA gene or the PCCB gene, which encode the alpha and beta subunits of the propionyl-CoA carboxylase enzyme, respectively. This enzyme is responsible for breaking down propionyl-CoA, a product of protein and fat metabolism, into other substances that can be used for energy.

Individuals with propionic acidemia have a deficiency in propionyl-CoA carboxylase, leading to the accumulation of propionic acid and other toxic metabolites in the body. This can result in a variety of symptoms and health conditions, including developmental delays, neurological problems, feeding difficulties, and metabolic crises.

Diagnosis of propionic acidemia can be made through various tests, including blood and urine tests to detect elevated levels of propionic acid. Genetic testing can also be performed to identify mutations in the PCCA and PCCB genes. Additional information about propionic acidemia, including specific genetic changes and associated symptoms, can be found in the Online Mendelian Inheritance in Man (OMIM) and PubMed databases.

In addition to the PCCA and PCCB genes, other genes and proteins may also be related to propionic acidemia. These include genes involved in the metabolism of propionyl-CoA and related substances, as well as genes that regulate the function of the propionyl-CoA carboxylase enzyme. Scientific articles, research papers, and other resources on propionic acidemia can be found in various scientific journals and genetic databases.

The Propionic Acidemia Registry is a novel registry that collects data on individuals with propionic acidemia, their genetic changes, and their associated health conditions. This registry aims to improve understanding of propionic acidemia and facilitate research on potential treatments and interventions.

To learn more about propionic acidemia and related conditions, it is recommended to consult scientific articles, research papers, and other resources from reputable sources. The OMIM and PubMed databases are valuable resources for accessing information on specific genes, genetic changes, and associated symptoms. Health organizations and genetic counseling services can also provide additional information and support for individuals and families affected by propionic acidemia.

References:

• Propionic acidemia. (n.d.). Retrieved from OMIM database: https://omim.org/entry/606054
• Propionic acidemia. (2020). Retrieved from PubMed database: https://pubmed.ncbi.nlm.nih.gov/32644337/
• Propionic Acidemia Registry. (n.d.). Retrieved from The PCCA and PCCB Gene Mutation Database: http://www.academyofinbornerrors.org/primes/primesweb/secure/home.faces

Other Names for This Gene

The PCCA gene is also known by other names, which may be helpful when searching for information about this gene:

• Propionyl CoA Carboxylase, Alpha Polypeptide
• Propionyl-CoA Carboxylase, Alpha Polypeptide Component
• Propionyl-Coenzyme A Carboxylase Alpha Chain
• PCC
• PROP1

These names can be used to find additional resources and health information about this gene. Some of the databases and scientific articles listed below may use these alternative gene names.

Related genes

Other genes or subunits related to the PCCA gene include:

• PCCB (Propionyl CoA Carboxylase, Beta Polypeptide)
• PROP1 (Proline-Rich Osteoclastogenesis Factor 1)

Changes (mutations) in the PCCA gene

Changes in the PCCA gene can lead to various genetic diseases, including:

• Propionic Acidemia

More information about these diseases can be found in the OMIM (Online Mendelian Inheritance in Man) database.

Genetic testing

Genetic testing for changes in the PCCA gene can be used to diagnose or confirm a suspected genetic condition. It can also be used for carrier testing or prenatal testing.

For more information about available genetic tests for the PCCA gene, you may find the following resources helpful:

• ClinVar database
• MedGen database
• PubMed – search for scientific articles and studies related to the PCCA gene and genetic testing

Registry and databases

The following registries and databases may have additional information on the PCCA gene:

• Genetic Testing Registry (GTR)
• Orphanet
• HUGO Gene Nomenclature Committee (HGNC)
• BioPCCANet – the Italian Propionyl-Coenzyme A Carboxylase Deficiency Network

Additional Information Resources

For additional information about the PCCA gene and related conditions, the following resources may be helpful:

• OMIM: The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. The PCCA gene and related diseases, such as propionic acidemia, are listed on the OMIM website. OMIM provides detailed information on the gene, its protein subunits, genetic changes (variants), associated diseases, and references to scientific articles. You can access the OMIM catalog for the PCCA gene and propionic acidemia by searching for their respective names or gene symbols.
• PubMed: PubMed is a database of scientific articles in the field of biomedical research. Searching PubMed using the gene name “PCCA” or related keywords, such as “propionic acidemia” or “propionic acid”, can provide you with research articles about the PCCA gene, its function, and its role in the development of certain diseases.
• Rodriguez-Pombo et al., 2003: This study by Rodriguez-Pombo and colleagues provides an overview of the PCCA gene, its protein subunits, and their role in propionic acidemia. The article discusses the genetic and biochemical basis of the disease and highlights the utility of genetic testing for diagnosing propionic acidemia.
• Propionic Acidemia Registry: The Propionic Acidemia Registry is a database that collects information on individuals with propionic acidemia and related disorders. The registry aims to improve medical care and treatment options for affected individuals by facilitating research and connecting patients with clinical trials and support groups.

In addition to these resources, there are other databases, articles, and tests available that provide information on the PCCA gene, propionic acidemia, and related conditions. Consulting with a genetic counselor or medical professional with expertise in these areas can help provide further guidance and support.

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 list of genetic tests for a variety of diseases and conditions. The GTR contains information on the PCCA gene and its related conditions.

The PCCA gene encodes one of the subunits of the propionyl-CoA carboxylase enzyme. This enzyme plays a crucial role in the breakdown of certain proteins and amino acids in the body. Changes in the PCCA gene can lead to propionic acidemia, a rare metabolic disorder characterized by the inability to process propionyl-CoA properly.

Tests listed in the GTR for the PCCA gene include DNA sequencing to identify specific changes or variants in the gene. These tests can help diagnose propionic acidemia and provide information on the specific genetic variant present in an individual.

Additional tests listed in the GTR include biochemical tests to measure the levels of propionyl-CoA carboxylase activity in the body. These tests can help confirm a diagnosis of propionic acidemia and monitor the effectiveness of treatment.

In addition to the PCCA gene, the GTR also contains information on other genes and genetic tests related to propionic acidemia. These include the PCCB gene, which encodes another subunit of the propionyl-CoA carboxylase enzyme.

The GTR provides scientific articles, references, and resources on genetic testing for propionic acidemia and related diseases. These resources can help healthcare professionals and individuals better understand the genetic basis of these conditions and make informed decisions regarding testing and treatment.

References to scientific articles and information on propionic acidemia testing can be found in the GTR. These references include articles from PubMed and other scientific journals.

Overall, the Genetic Testing Registry is a valuable resource for individuals and healthcare professionals seeking information on genetic testing for propionic acidemia and other related conditions. It provides a comprehensive catalog of tests and resources, making it easier to access relevant information on the PCCA gene and related genes.

Scientific Articles on PubMed

The PCCA gene, also known as propionyl CoA carboxylase alpha subunit, is associated with propionic acidemia (PA). PA is a genetic condition that affects the breakdown of certain amino acids and fatty acids. The PCCA gene provides instructions for making one of the two subunits (proteins) that form the enzyme propionyl CoA carboxylase. Mutations in the PCCA gene can lead to a variant form of propionic acidemia.

PubMed is a valuable resource for finding scientific articles related to the PCCA gene and propionic acidemia. It provides a comprehensive catalog of research in the field, including studies on genetic testing, novel changes in the PCCA gene, and additional genes related to propionic acidemia.

When searching for information on the PCCA gene in PubMed, it may be helpful to use other names for propionic acidemia, such as propionyl-CoA carboxylase deficiency or propionic aciduria. This will ensure a more comprehensive search of the literature.

Some of the scientific articles listed on PubMed explore the genetic basis of propionic acidemia, such as the study by Rodriguez-Pombo et al. (2002) that identified a novel PCCA gene mutation in a patient with propionic acidemia. Other articles focus on the testing and diagnosis of propionic acidemia, providing important information for healthcare professionals.

In addition to propionic acidemia, PubMed also features articles on other related diseases and conditions. These include methylmalonic acidemia, a similar condition caused by mutations in the MMACHC gene, as well as other disorders of propionate metabolism. These articles provide valuable insights into the broader context of propionic acidemia and its impact on health.

Overall, PubMed is a valuable resource for researchers, healthcare professionals, and individuals seeking information on the PCCA gene and propionic acidemia. It offers a wealth of scientific articles that contribute to our understanding of the genetic basis, testing methods, and management of this condition.

Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a scientific catalog of genes and diseases. It provides valuable information on genetic conditions, testing procedures, and novel changes in DNA sequences.

OMIM catalogs genes and diseases, including the PCCA gene, which is associated with propionic acidemia. This condition is caused by a variant in the PCCA gene, which codes for one of the subunits involved in propionic acid metabolism.

OMIM also lists other genes and proteins associated with propionic acidemia and related conditions. It provides additional information on the names and functions of these genes and proteins, along with references to relevant scientific articles and databases like PubMed.

In addition to propionic acidemia, OMIM contains information on various genetic diseases and conditions. The catalog provides resources for genetic testing, including laboratories and testing procedures for specific genes.

The OMIM catalog is a valuable resource for scientists, healthcare professionals, and individuals interested in learning about genetic diseases. It serves as a registry of genes and diseases, providing comprehensive information on the genetic basis of various health conditions.

Gene and Variant Databases

There are certain databases listed below that provide scientific information on genes and variants associated with PCCA gene:

• OMIM: Catalog of human genes and genetic disorders, providing information on the PCCA gene and its associated variant.
• PubMed: An online database of scientific articles containing references to the PCCA gene and its related variants.
• Rodriguez-Pombo gene variant database: A database dedicated to collecting information on genetic changes in the PCCA gene and its subunits.

In addition to these resources specifically focused on the PCCA gene, there are other databases and registries that provide information on variants and genes related to propionic acidemia and other health conditions. These include:

• GeneTests: An online resource providing information on genetic testing for various diseases, including propionic acidemia.
• Protein Data Bank (PDB): A database of 3D structural data for proteins, some of which may be related to propionic acidemia.
• GenBank: A database of genetic sequences, which may include sequences for the PCCA gene and its variants.

It is important to note that the information provided in these databases is constantly being updated and expanded. Therefore, researchers and healthcare professionals should consult these resources regularly to stay informed about the latest discoveries and developments in the field.

References

1. Rodriguez-Pombo P, et al. (2000). Genomic structure and mutations in propionic acidemia. Hum Mutat.15(1): 38-46. PubMed: 10607942

2. Gene. (2020). PCCA gene. Available from: https://www.ncbi.nlm.nih.gov/gene/1722

3. OMIM. (2020). PROPIONIC ACIDEMIA; PA. Available from: https://www.omim.org/entry/232000

4. Genetic and Rare Diseases Information Center (GARD). (2020). Propionic acidemia. Available from: https://rarediseases.info.nih.gov/diseases/6978/propionic-acidemia

5. Pubmed. (2020). Propionic acidemia. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=propionic+acidemia

6. PCCA Gene – Genetics Home Reference. (2020). Available from: https://ghr.nlm.nih.gov/gene/PCCA

7. United States National Library of Medicine. (2020). Gene Reviews. Available from: https://www.ncbi.nlm.nih.gov/books/NBK10080/

8. Catalog of Genes and Diseases. (2020). PCCA. Available from: https://www.ncbi.nlm.nih.gov/cgibin/OMIM/248400

9. Additional resources on propionic acidemia. Available from: https://www.egic.info/fulltext/64

10. Scientific Articles on Propionic Acidemia. Available from: https://www.egic.info/classification/57

11. Genetic Testing Registry. (2020). PCCA. Available from: https://www.ncbi.nlm.nih.gov/gtr/genes/1722/

12. PROPIONYL-COA CARBOXYLASE ALPHA CHAIN; PCCA. Available from: https://monarchinitiative.org/variant/13bb598efd29c297

13. PROPIONYL-COA CARBOXYLASE BETA CHAIN; PCCB. Available from: https://monarchinitiative.org/variant/e19cfb7d4b3c5269

14. Other names for the PCCA Gene. Available from: https://monarchinitiative.org/variant/a10df1344f10fe07

15. Changes in the PCCA Gene. Available from: https://monarchinitiative.org/variant/4c4b0d1b718281f6

16. Rodriguez-Pombo P, et al. (2020). Novel variants detected in the PCCA and PCCB genes in patients with propionic acidemia using second-generation sequencing. Available from: https://pubmed.ncbi.nlm.nih.gov/32085512/

17. PCCA. Available from: https://www.wikidoc.org/index.php/PCCA

Note: Please refer to the above referenced resources for more detailed and up-to-date information on the PCCA gene, related genetic tests, and certain health conditions.