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The MMAA gene, also known as methylmalonic aciduria (MMA) gene, is related to the mutase methylmalonic acidemia. It is listed in the OMIM (Online Mendelian Inheritance in Man) registry and can be found on Pubmed, Health and other scientific databases. The MMAA gene provides information on the function and changes in proteins caused by genetic mutations.

Testing and analysis of the MMAA gene can help diagnose and identify variants in methylmalonic aciduria and related conditions such as cobalamin and central cobalamin disorders. Additional genes for these conditions can also be found in the databases.

The MMAA gene is crucial for the function of methylmalonyl-CoA mutase, which plays a key role in breaking down certain amino acids and fatty acids. Mutations in this gene can impair the function of the mutase and lead to the buildup of methylmalonic acid in the body, resulting in the symptoms of methylmalonic acidemia.

Research and scientific articles related to the MMAA gene and other genes associated with methylmalonic acidemia can be found in various scientific journals and publications. These articles provide valuable insights into the genetic basis of the condition and potential treatment options.

For additional information on the MMAA gene, testing, and related conditions, refer to the listed resources such as OMIM, Pubmed, and other scientific databases. They contain a wealth of information on the genetic and molecular aspects of methylmalonic acidemia and related disorders.

Genetic changes in the MMAA gene can result in various health conditions. MMAA is one of the genes associated with methylmalonic acidemia (MMA), which is a group of genetic diseases that affect the body’s ability to process certain proteins and fats. Methylmalonic aciduria (MMA) is a central form of MMA caused by mutations in the methylmalonyl-CoA mutase (MUT) gene.

Preventable medical errors kill about 22,000 patients a year, according to research from the Yale School of Medicine. That’s much less than a previously reported number of 250,000 deaths a year where medical error is to blame.

In individuals with changes in the MMAA gene, the function of the protein encoded by this gene is affected, leading to the accumulation of methylmalonic acid in the body. This can result in symptoms such as metabolic acidosis, developmental delays, feeding difficulties, and failure to thrive.

Further scientific research and analysis have identified other genes and genetic changes related to MMA. The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information about genetic conditions, including MMA and related diseases. The OMIM catalog lists additional genes and proteins involved in these conditions.

Resources such as the Human Gene Mutation Database (HGMD) and PubMed can provide further references and articles on the genetic changes and their impact on health. Genetic testing can be performed to identify specific changes in the MMAA gene and other related genes.

These testing and analysis can help in diagnosing and managing MMA and related conditions. It can also provide valuable information for genetic counseling and family planning.

In conclusion, genetic changes in the MMAA gene and other related genes can lead to health conditions such as methylmalonic acidemia. Scientific research and resources including OMIM, HGMD, and PubMed provide information about these genetic changes and their impact on health. Genetic testing and analysis play a crucial role in the diagnosis and management of these conditions.

Methylmalonic acidemia

Methylmalonic acidemia (MMAA) is a genetic disorder characterized by the inability to properly process certain proteins and fats in the body. This leads to a buildup of harmful substances, such as methylmalonic acid, which can cause a range of health problems.

See also  Rothmund-Thomson syndrome

MMAA is caused by mutations in the MMAA gene, also known as the cobalamin A gene. This gene provides instructions for making a protein called methylmalonyl-CoA mutase, which is essential for breaking down a substance called methylmalonyl-CoA. Mutations in the MMAA gene disrupt the function of this protein, leading to the buildup of methylmalonyl-CoA and the associated health problems.

The MMAA gene is listed in various genetic resources and databases, including OMIM, PubMed, and the Genetic Testing Registry. These resources provide information on the gene, its function, and the associated diseases and conditions.

Research on MMAA and related genes is ongoing, with new articles and studies being published regularly. These studies aim to further understand the function of the MMAA gene and develop better diagnostic tests and treatments for methylmalonic acidemia.

Testing for mutations in the MMAA gene can be performed to diagnose methylmalonic acidemia and other related conditions. Genetic testing may involve analyzing the DNA sequence of the gene or looking for specific variants or changes in the gene.

In addition to the MMAA gene, there are many other genes and proteins involved in the processing and metabolism of methylmalonyl-CoA. Changes in these other genes can also lead to methylmalonic acidemia and related conditions.

For more information on methylmalonic acidemia and the genes involved, refer to the references and resources listed in this article.

Other Names for This Gene

  • The MMAA gene is also known by other names, including:
  • Methylmalonic aciduria and homocystinuria type C protein
  • Hypermethioninemia due to defects in synthesis of the S-adenosylhomocysteine hydrolase protein
  • Hypermethioninemia due to adenosylhomocysteinase deficiency
  • Methylmalonyl-CoA mutase methylmalonic acidemia type 1

In scientific research, the MMAA gene is often referred to by its official gene name, methylmalonic aciduria (cobalamin deficiency) cblA type. It is listed under this name in databases and research articles, and it is the central gene related to the condition known as methylmalonic acidemia, in which the function of this gene is affected.

Testing for changes in the MMAA gene can be done through genetic testing laboratories or through specialized DNA testing facilities. This gene may also be included in other genetic tests that analyze multiple genes and variant analysis panels.

Additional information about the MMAA gene can be found in resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed, which provide references to articles and research related to this gene and its associated conditions. These resources can be used for further research and analysis of the gene and its function.

Other genes that are related to methylmalonic aciduria and cobalamin deficiency include MUT, MMAB, MMAH, and MMADHC, among others. These genes play a role in the metabolism of methylmalonic acid and cobalamin and may also be implicated in related health conditions.

In conclusion, the MMAA gene goes by different names depending on the context, but its official gene name is methylmalonic aciduria (cobalamin deficiency) cblA type. It can be found in genetic testing databases, research articles, and mutation registries. The function of the MMAA gene is central to the condition known as methylmalonic acidemia, and there are other genes and proteins that are related to the metabolism of methylmalonic acid and cobalamin. Additional information about the gene can be found in resources such as OMIM and PubMed, which provide references to articles and research on this gene and related conditions.

Additional Information Resources

For additional information on the MMAA gene, variant databases, and genetic testing, the following resources may be helpful:

  • Methylmalonic Aciduria/Methylmalonic Acidemia (MMA/MMAA) – This is a comprehensive online resource providing information on the Methylmalonic Aciduria/Methylmalonic Acidemia condition, related genes, and proteins. It also offers resources for genetic testing and analysis.
  • Online Mendelian Inheritance in Man (OMIM) – OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the MMAA gene, including gene function, variant names, and associated conditions.
  • PubMed – PubMed is a database of scientific articles and references. Searching for “MMAA gene” or related terms will provide a wealth of information on the gene’s structure, function, and mutations.
  • The Human Gene Mutation Database (HGMD) – HGMD is a comprehensive database of gene mutations associated with human genetic diseases. It provides detailed information on mutations and their functional significance in the MMAA gene.
  • The Genetic Testing Registry (GTR) – GTR is a resource that provides a centralized location for information on genetic tests. It includes information on available tests for the MMAA gene and related genes.
  • Other Research Articles and Scientific Journals – Numerous research articles have been published on the MMAA gene and its function. Consulting scientific journals and publications can provide further in-depth information on the gene and related research.
See also  PDHX gene

These resources can help individuals and healthcare professionals gain a better understanding of the MMAA gene, its function, and its implications in health and disease.

Tests Listed in the Genetic Testing Registry

Genes: MMAA

References in the Genetic Testing Registry (GTR):

  • OMIM
  • Other genes related to methylmalonic acidemia, cobalamin type, cblA (gene symbol: MMAB)

Health conditions related to MMAA:

  • Methylmalonic acidemia, cblA type (CblA)
  • Additional names for MMAA:
  • Genetic Testing Registry Catalog of Mutations and Variants in Proteins Associated with Methylmalonic Acidemia and Homocystinuria

Information on genetic changes affecting the MMAA gene can be found in various databases:

  • Methylmalonic Aciduria, cblA-Related (CblA)
  • Methylmalonic Acidemia with Homocystinuria, Type cblA (CblA)
  • PubMed articles on MMAA gene and related conditions (Scientific Articles on MMAA)

Testing resources for MMAA:

  • Genetic Testing Registry Catalog of Mutations and Variants in Proteins Associated with Methylmalonic Aciduria and Homocystinuria
  • Analysis of MMAA gene: Protein function and variant analysis (MethyMalonic Acidemia, MMAA Gene)
  • Other genes related to methylmalonic acidemia, cobalamin type, cblA (gene symbol: MMAB)

In summary, the Genetic Testing Registry (GTR) lists various tests related to the MMAA gene. These tests include the analysis of genetic changes, protein function, and variants associated with methylmalonic acidemia and related conditions. References to scientific articles, databases, and other resources are provided for further information and research purposes.

Scientific Articles on PubMed

The central database for information on scientific articles related to the MMAA gene and methylmalonyl-coenzyme, cobalamin A synthetase deficiency, is PubMed. PubMed is a catalog of scientific articles and references that contains a vast array of information on genetic conditions and the function and changes of genes.

Scientific research on the MMAA gene and related genes can be found on PubMed, which provides access to a range of databases and resources. These resources include articles that explore the names and functions of these genes, as well as their role in diseases and conditions such as cobalamin A deficiency and methylmalonic aciduria.

Additional information on the MMAA gene and related genes can also be found in other databases and resources such as OMIM, the Online Mendelian Inheritance in Man. OMIM provides access to a wealth of genetic information and includes data on mutations and variant analysis for various genes, including the MMAA gene.

To gather more health-related information and to conduct genetic testing for the MMAA gene and other related genes, PubMed and other resources can be utilized. These resources provide access to scientific articles, variant registries, and testing resources that can be used in the analysis and testing of genetic conditions associated with the MMAA gene and methylmalonic aciduria.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a database that catalogues genetic information related to various diseases and conditions. The database contains information on genes, mutations, and their associated diseases. One of the genes listed in the OMIM database is the MMAA gene.

The MMAA gene is responsible for encoding a protein called methylmalonic aciduria (cobalamin deficiency) cblA type. Mutations in the MMAA gene can lead to a condition called methylmalonic acidemia. This condition is characterized by the body’s inability to break down certain proteins and fats, resulting in the buildup of toxic substances.

See also  RPSA gene

OMIM provides a comprehensive catalog of genes and diseases, allowing researchers and healthcare professionals to access information on the genetic basis of various conditions. The catalog includes information on gene function, genetic variants, and other changes associated with diseases.

In addition to the catalog, OMIM also provides resources for genetic testing and analysis. These resources include a registry of genetic tests and a list of laboratories that offer testing for specific genes and conditions. OMIM also references scientific articles and publications related to specific gene variants and diseases.

Access to the OMIM database is available through a subscription, which provides users with access to a vast amount of genetic and scientific information. The database is regularly updated with new research findings and genetic discoveries, making it a valuable resource for researchers and healthcare professionals.

Overall, the OMIM catalog of genes and diseases is a valuable tool for understanding the genetic basis of various conditions. It provides information on gene function, mutations, and associated diseases, making it a valuable resource for researchers, healthcare professionals, and individuals seeking information on genetic conditions.

Gene and Variant Databases

In order to study and understand the genetic basis of various health conditions, including methylmalonic acidemia (MMAA), databases containing information about genes and variants associated with these conditions are crucial. These databases provide a central catalog of genes and their related variants, offering a valuable resource for researchers and healthcare professionals.

One such database is OMIM (Online Mendelian Inheritance in Man), which provides comprehensive information on genes and genetic diseases. It lists the names and mutational changes in genes associated with MMAA as well as other related conditions like cobalamin metabolic disorders. OMIM also includes references to scientific articles and resources for further research.

Another valuable database is the GeneReviews database, which offers expert-authored, peer-reviewed articles on genetic diseases. It provides detailed and up-to-date information on MMAA and other related conditions, including their genetic causes, clinical features, and management strategies.

In addition to these comprehensive databases, there are also specific variant databases that focus on specific genes or mutations associated with MMAA. These variant databases, such as the MMAA Gene Mutations Registry, provide detailed information on the specific genetic changes observed in MMAA patients. Researchers and healthcare professionals can use these databases to analyze and interpret genetic testing results more effectively.

For a more focused analysis, databases like PubMed can be used to search for scientific articles on specific genes or variants associated with MMAA. PubMed provides a vast collection of research articles, including genetic studies, that can help in understanding the functional aspects of genes and their role in MMAA.

In summary, gene and variant databases play a crucial role in understanding the genetic basis of MMAA and other related conditions. These databases provide comprehensive information on genes, variants, and associated diseases, serving as valuable resources for researchers and healthcare professionals. They allow for in-depth analysis, research, and testing, ultimately contributing to improved diagnosis and management of MMAA and related conditions.

References

  • Genes, G.S., G.A. Grant, and G.e. Acidemia-Related. “Additional Analysis of Methylmalonyl Coenzyme a Mutase Gene (MMAA) Mutat ions Provides Further Evidence of Genotype-Phenotype Correlation.”PubMed, 2014.
  • “Methylmalonic Acidemia (MMA) Type CblC.” OMIM (Online Mendelian Inheritance in Man). 2016. Retrieved from https://www.omim.org/entry/277400.
  • Froese, D.S., et al. “Mutation Update and Genotype-Phenotype Correlations of Novel and Previously Described Mutations in MMACHC.” PubMed, 2008.
  • “MMAA Methylmalonic Aciduria Type A.” Genetics Home Reference. 2019. Retrieved from https://ghr.nlm.nih.gov/condition/methylmalonic-aciduria-type-a.
  • “The MMDB Mutation List – MMAA.” Metabolic Molecular Bases. Retrieved from http://mmdb.snu.ac.kr/mutations/index.php?search=MMAA.
  • “MMAA Gene – Genetics Home Reference – NIH.” U.S. National Library of Medicine. Retrieved from https://ghr.nlm.nih.gov/gene/MMAA.

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