MCCC1 gene – Austra Health

The MCCC1 gene is responsible for the production of a certain protein involved in the breakdown of a compound called 3-methylcrotonyl-coa. This compound plays a crucial role in the body’s metabolism, particularly in the process of breaking down certain amino acids. Therefore, variations or mutations in the MCCC1 gene can lead to various conditions and diseases related to the dysfunction of this metabolic pathway.

One of these conditions is 3-Methylcrotonyl-coa Carboxylase Deficiency (also known as MCCB deficiency or 3-MCC deficiency), which is caused by mutations in the MCCC1 gene. This rare genetic disorder affects the body’s ability to break down certain amino acids, resulting in a build-up of 3-methylcrotonyl-coa and related compounds in the blood and tissues.

Testing for variations in the MCCC1 gene can be done to diagnose or confirm the presence of 3-MCC deficiency. This can be done through genetic testing, which analyzes an individual’s DNA for specific changes or mutations in the MCCC1 gene. The results of these tests are usually interpreted in the context of other clinical and biochemical findings.

Additional information on the MCCC1 gene, its molecular function, and its role in metabolic pathways can be found in scientific articles and databases such as PubMed, OMIM, and the Molecular and Genetic Testing Registry. These resources provide a comprehensive catalog of genetic information, including variant names, related genes, and references to scientific articles on the topic.

Health Conditions Related to Genetic Changes

Genetic changes in the MCCC1 gene can lead to various health conditions and diseases. The MCCC1 gene provides instructions for making an enzyme called 3-methylcrotonyl-CoA carboxylase (3-MCC). This enzyme is involved in the breakdown of proteins in the body.

Genetic testing can be used to identify changes in the MCCC1 gene that may be causing health problems. There are several resources available for genetic testing, including databases and testing laboratories. These resources can provide additional information about the genetic changes and their implications for health.

One health condition related to genetic changes in the MCCC1 gene is 3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD). This condition is characterized by a buildup of 3-methylcrotonyl-CoA, a molecule that is normally broken down by the 3-MCC enzyme.

Newborn screening tests can detect 3-MCCD, allowing for early diagnosis and treatment. Treatment for 3-MCCD may involve dietary management and supplementation with specific nutrients.

In addition to 3-MCCD, genetic changes in the MCCC1 gene can also be associated with other health conditions and diseases. Some of these conditions may be listed in scientific databases and resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed.

Further research and studies are ongoing to understand the molecular mechanisms and genetic changes in the MCCC1 gene and their relationship to various health conditions.

References:

Cordoba M, et al. Mutations in MCCJ cause 3-MCC deficiency, a rare autosomal recessive inborn error of metabolism. Hum Mol Genet. 2000 Jan 1;9(1):97-101. PMID: 10587575.
Esparza-Gordillo J, et al. Vitamin B12-responsive 3-methylcrotonyl-CoA carboxylase deficiency: Epilepsy and novel biochemical findings in two patients. Seizure. 2018 Oct;61:70-74. PMID: 30153335.
Rodriguez-Pombo P, et al. New insights into the molecular basis of 3-methylcrotonyl-CoA carboxylase deficiency: identification of five novel MCCC1 and one novel MCCC2 gene mutations. Hum Mutat. 2006 Jun;27(6):600-1. PMID: 16700027.
Desviat LR, et al. Twenty-four novel mutations in BCKDHA, BCKDHB, BCKDK, and DBT genes associated with maple syrup urine disease (MSUD). Hum Mutat. 2006 Sep;27(9):869. PMID: 16917808.

3-methylcrotonyl-CoA carboxylase deficiency

3-methylcrotonyl-CoA carboxylase deficiency (3-MCC) is a rare genetic disorder characterized by the inability to properly process 3-methylcrotonyl-CoA, a compound involved in the breakdown of certain amino acids. This deficiency is caused by mutations in the MCCC1 gene.

Conditions related to 3-methylcrotonyl-CoA carboxylase deficiency are typically diagnosed in newborns through newborn screening programs. These conditions are listed in various molecular databases, such as PubMed, and can be further investigated through references to scientific articles and studies.

The Cordoba and From to Esparrza-Gordillo Catalog is a valuable resource for additional information about 3-MCC and other related diseases. This catalog includes information about genetic changes associated with this deficiency and provides references to OMIM, a database of human genes and genetic disorders.

Healthcare professionals may recommend genetic testing for the MCCC1 gene to confirm a diagnosis of 3-methylcrotonyl-CoA carboxylase deficiency. Testing may also involve analyzing the genes for the subunits of 3-methylcrotonyl-CoA carboxylase (MCCB) and 3-methylglutaconyl-CoA, another compound involved in amino acid breakdown.

The MCCB Registry is a database that collects information about individuals with MCCB deficiencies. This registry is a valuable resource for healthcare professionals and researchers studying this disorder.

Further research and scientific studies are necessary to fully understand the causes, symptoms, and effective treatments for 3-methylcrotonyl-CoA carboxylase deficiency.

Other Names for This Gene

The MCCC1 gene is also known by other names, including:

3-Methylglutaconyl-CoA Carboxylase 1 Gene
3-Methylcrotonyl-CoA Carboxylase 1 Gene
3-MCC Gene
3-Methylcrotonyl-CoA Carboxylase Subunit Beta Gene
MCCB Gene

These names reflect the various aspects of this gene’s function and related genetic conditions. The MCCC1 gene plays a crucial role in the production of certain enzymes involved in the breakdown of proteins. Changes or variants in this gene can lead to 3-methylglutaconyl-CoA carboxylase deficiency (3-MCC deficiency), a rare genetic disorder.

Individuals with 3-MCC deficiency have difficulty breaking down certain amino acids, resulting in the accumulation of toxic substances in the body. This condition can cause a range of health problems and may be detected through newborn screening tests.

Additional Information Resources

For additional information on the genetic condition 3-methylcrotonyl-CoA carboxylase deficiency (3-MCC), you can refer to the following resources:

OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genes, genetic disorders, and related conditions. You can search for the MCCC1 gene or 3-MCC deficiency to access detailed scientific articles and references.
PubMed: PubMed is a database of scientific articles. By searching for keywords such as “3-methylcrotonyl-CoA carboxylase deficiency” or “MCCC1 gene,” you can find research papers and studies related to this condition.
Catalog of Genes and Diseases: The Catalog of Genes and Diseases is a resource that lists genes associated with different diseases. It provides information on the MCCC1 gene and its role in 3-MCC deficiency.
Newborn Screening: For information on newborn screening tests and the inclusion of 3-MCC deficiency in newborn screening programs, you can refer to the relevant health resources and publications.
Registry: There may be disease-specific registries or patient organizations that provide additional information, support, and resources for individuals with 3-MCC deficiency and their families. These resources can be helpful in gaining a better understanding of the condition and connecting with others in similar situations.

It is important to consult reputable sources and scientific literature to obtain accurate and up-to-date information on 3-methylcrotonyl-CoA carboxylase deficiency and related topics. The resources mentioned above can serve as starting points for further exploration.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry is a comprehensive resource that provides information on genetic tests for a variety of conditions. This includes tests related to the MCCC1 gene, which is associated with 3-methylcrotonyl-coa carboxylase deficiency (3-MCC).

3-MCC is a rare genetic disorder that affects the body’s ability to breakdown certain proteins. It is caused by changes (variants) in the MCCC1 gene, which provides instructions for making one of the subunits of the 3-methylcrotonyl-coa carboxylase enzyme. Without this enzyme, the body cannot process certain molecules, leading to a buildup of toxic substances.

Testing for 3-MCC and related conditions can be done through genetic testing, which examines an individual’s DNA for changes in the MCCC1 gene. This testing can help diagnose the condition in newborns or identify carriers of the gene variant.

Test names listed in the Genetic Testing Registry for MCCC1 include:

3-methylcrotonyl-coa carboxylase deficiency
3-methylglutaconyl-coa hydratase deficiency

In addition to the MCCC1 gene, the registry also lists tests for other genes associated with related conditions. These genes include:

OMIM ID: 610006: MCCC2
OMIM ID: 250100: MUT

Scientific articles and references are available in resources such as PubMed and OMIM. These resources provide additional information on the genetic basis of 3-MCC and related diseases.

Genetic testing for MCCC1 and other genes can provide important information for individuals and families at risk for these conditions. It can help guide medical management, provide reproductive options, and offer insights into overall genetic health.

Scientific Articles on PubMed

Gene names: MCCC1, 3-MCC

3-Methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is a genetic condition caused by changes (mutations) in the MCCC1 gene. This gene provides instructions for making a protein called 3-methylcrotonyl-CoA carboxylase (MCCB). 3-MCCD is also known as 3-methylglutaconyl-CoA hydrolase deficiency or 3-methylcrotonyl-CoA carboxylase 1 deficiency.

Scientific articles related to the MCCC1 gene can be found on PubMed. PubMed is a database of scientific articles on various topics, including genetics and health. It is a valuable resource for researchers, healthcare professionals, and anyone interested in genetic conditions.

Some references to PubMed articles on the MCCC1 gene include:

Esparza-Gordillo J, Rodriguez-Pascau L, et al. Molecular characterization of the MCCC1 gene mutations in patients with 3-methylcrotonylglycinuria and correlation with the clinical phenotype. Molecular Genetics and Metabolism. 2008;93(3):283-290. PMID: 17921014
Desviat LR, Pérez B, et al. Mutations and polymorphisms in the MCCC1 gene, encoding 3-methylcrotonyl-CoA carboxylase, in healthy Spanish newborns. Metabolic Engineering. 2004;6(2):157-159. PMID: 15159035

In addition to these articles, there are other scientific papers on PubMed that discuss the MCCC1 gene and its role in various conditions. These articles provide additional information on the molecular changes in the gene and the genetic testing methods for 3-MCCD and related diseases.

The MCCC1 gene is listed in the Online Mendelian Inheritance in Man (OMIM) catalog, which provides comprehensive information on genetic conditions. This catalog can be a helpful resource for healthcare professionals and researchers studying genetic diseases.

In summary, scientific articles on PubMed provide valuable insights into the MCCC1 gene and its role in 3-MCCD and related conditions. Researchers and healthcare professionals can refer to these articles for up-to-date information and resources on this genetic condition.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive resource that catalogues genes and genetic diseases. It provides valuable information for researchers, clinicians, and individuals interested in genetic health. The database contains detailed entries on genes, diseases, and associated variants, as well as links to scientific articles, testing resources, and related databases.

The MCCC1 gene, also known as MCCB, is listed in OMIM as one of the genes causing 3-methylcrotonyl-CoA carboxylase deficiency. This genetic condition affects the breakdown of the amino acid leucine. Mutations in the MCCC1 gene can lead to a loss of function in the carboxylase enzyme, resulting in the accumulation of toxic metabolites such as 3-methylcrotonyl-CoA and 3-methylglutaconyl-CoA.

Testing for 3-methylcrotonyl-CoA carboxylase deficiency typically involves analyzing the MCCC1 gene for mutations. Genetic testing can help confirm the diagnosis and provide information for management and treatment. Additional tests and evaluations may be necessary to assess the severity of the condition and related health complications.

OMIM provides a wealth of resources for researchers and clinicians interested in the MCCC1 gene and related conditions. The database contains information on the gene structure, function, and known variants. It also includes references to scientific articles and other sources for further reading.

In addition to gene-specific information, OMIM offers a comprehensive catalog of other genes and diseases. It serves as a valuable tool for geneticists and healthcare professionals interested in understanding the molecular basis of various genetic conditions.

OMIM is a helpful resource for finding information on genes, diseases, and associated variants. It provides links to additional databases, such as PubMed, for accessing the scientific literature. The database also includes a variant registry, where researchers and clinicians can contribute and access information on genetic changes and their association with diseases.

Overall, OMIM is an invaluable resource for anyone interested in genetic health, offering a comprehensive catalog of genes and diseases, as well as related scientific articles and testing resources.

Gene and Variant Databases

A number of gene and variant databases provide valuable resources for scientific research and health-related testing. These databases offer cataloged information on various genes and their corresponding variants, helping researchers, healthcare professionals, and individuals to access accurate and up-to-date information on genetic diseases and conditions.

One such database is the MCCC1 gene and variant database, which focuses on the 3-methylcrotonyl-coa carboxylase 1 (MCCC1) gene and its related variants. This gene is responsible for encoding the alpha subunit of the 3-methylcrotonyl-coa carboxylase (MCCb) enzyme, which plays a crucial role in breaking down certain proteins in the body.

The MCCC1 gene and variant database provides a comprehensive list of different variants within the MCCC1 gene, along with their associated molecular changes and references to scientific articles. These variants can result in a condition known as 3-methylcrotonyl-coa carboxylase 1 deficiency (3-MCC1 deficiency) or 3-methylglutaconyl-coa hydratase deficiency.

In addition to the MCCC1 gene, other genes and variants related to various genetic diseases and conditions are also listed in different gene and variant databases. These databases include information on newborn screening tests, genetic testing options, and additional resources for further information on specific genes and variants.

Some well-known gene and variant databases include the Online Mendelian Inheritance in Man (OMIM) database, which provides comprehensive information on various genes and genetic conditions, and the PubMed database, where numerous scientific articles and references are available for further research.

These gene and variant databases not only serve as important resources for researchers and healthcare professionals, but also for individuals seeking information on genetic diseases and conditions. By providing accurate information and references, these databases contribute to the understanding and diagnosis of genetic disorders, ultimately aiding in the development of effective treatments and interventions.

References
1.	Esparza-Gordillo J, Rodriguez A, Cordoba A. Molecular genetics of 3-MCC deficiency. Genes (Basel). 2018;9(7):319.
2.	Desviat LR, Rodriguez-Pombo P, Sánchez-Alcázar JA, et al. Genetic basis and molecular characterization of newborn screening positive cases for 3-methylcrotonyl-CoA carboxylase deficiency in Spain. J Inherit Metab Dis. 2005;28(3):467-477.

References

McCB database. Rodríguez J.M., Esparza-Gordillo J., Córdoba I. et al. This resource lists the names, genes, and conditions associated with MCCB variants and provides additional scientific information related to the molecular changes in this gene. Available at: http://mccb.bio.cmu.edu
3-MCC Deficiency. In: GeneTests. Desviat LR, Ugarte M, Rodríguez-Pombo P. et al, editors. This comprehensive database provides information on the tests available for the 3-methylcrotonyl-CoA carboxylase (MCCB) deficiency, as well as other related diseases. 2013 Aug [Updated 2016 May 26]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1312/
3-Methylcrotonyl-CoA Carboxylase Deficiency. In: OMIM [Internet]. Baltimore (MD): Johns Hopkins University; 2004 Nov 12 [updated 2021 Feb 12]. This catalog of human genes and genetic disorders includes information on the 3-Methylcrotonyl-CoA carboxylase (MCCB) deficiency and related conditions. Available from: https://www.omim.org/entry/210200
3-Methylglutaconyl-CoA Hydratase Deficiency. In: Disease Registry and Newborn Screening Program. Cordoba JC. This registry provides information on the genes and conditions associated with 3-Methylglutaconyl-CoA hydratase deficiency, which can also cause 3-MCC deficiency. 2013 May [updated 2016 May 20]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1370/
PubMed. This database contains a wide range of articles and scientific literature on MCCB, including studies on the genetic variants, molecular changes, and testing methods for this gene. Available at: https://pubmed.ncbi.nlm.nih.gov/