The MMP20 gene, also known as enamelysin, is an autosomal recessive gene involved in amelogenesis, the formation of tooth enamel. It encodes a protein called matrix metalloproteinase-20, which plays a crucial role in the development and mineralization of enamel. MMP20 is one of several genes involved in this process, along with amelogenin, ameloblastin, and other variants.

Testing for mutations in the MMP20 gene can be done to diagnose genetic conditions such as amelogenesis imperfecta, a group of genetic diseases characterized by abnormal enamel formation. Variants in this gene have been listed in genetic databases such as OMIM and have been the subject of scientific articles and citation from PubMed.

Additional information on the structure and function of the MMP20 gene can be found in scientific articles and resources listed on PubMed. The gene’s crystal structure and changes caused by mutation have been studied extensively, providing insights into its role in enamel development. The MMP20 gene is also included in the NCBI Gene database and the Human Gene Mutation Database.

Health Conditions Related to Genetic Changes

Genetic changes in the MMP20 gene are associated with several health conditions. MMP20, also known as enamelysin, plays an important role in tooth development and is particularly involved in the formation of enamel, the hard outer layer of teeth.

One of the conditions related to genetic changes in the MMP20 gene is autosomal recessive amelogenesis imperfecta, a rare disorder characterized by abnormal enamel formation. Individuals with this condition have teeth that are weak, discolored, and prone to chipping and breaking. Amelogenesis imperfecta can cause significant dental problems and may require extensive dental treatment.

Research has shown that genetic variants in the MMP20 gene affect its structure and function, leading to disruptions in enamel formation. Several mutations in this gene have been identified and listed in various genetic databases, including OMIM (Online Mendelian Inheritance in Man) and the Human Gene Mutation Database (HGMD).

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Genetic testing can be performed to identify specific variants in the MMP20 gene that are associated with amelogenesis imperfecta. This information can be helpful for diagnosing the condition, determining its severity, and providing appropriate treatment and management strategies.

Additional health conditions may also be related to genetic changes in the MMP20 gene, although the specific variants and their effects are not yet well understood. Scientific articles and research studies continue to investigate the role of MMP20 in tooth development and its potential involvement in other dental and genetic conditions.

References:

1. Bartlett JD, Simmer JP. Proteinases in developing dental enamel. Crit Rev Oral Biol Med. 1999;10(4):425-441. doi:10.1177/10454411990100040201
2. Kida M, Takeda M, Nagai T, et al. MMP20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta. J Med Genet. 2002;39(12):E78. doi:10.1136/jmg.39.12.e78
3. Kim JW, Seymen F, Lin BP, et al. ENAM mutations in autosomal-dominant amelogenesis imperfecta. J Dent Res. 2012;91(12):1205-1210. doi:10.1177/0022034512465107
4. Margolis HC, Beniash E, Fowler CE. Role of macromolecular assembly of enamel matrix proteins in enamel formation. J Dent Res. 2006;85(9):775-793. doi:10.1177/154405910608500902

For more information on health conditions related to genetic changes in the MMP20 gene, please refer to the following resources:

• The OMIM catalog: https://www.omim.org/
• The Human Gene Mutation Database (HGMD): https://www.hgmd.cf.ac.uk/ac/index.php
• PubMed: https://pubmed.ncbi.nlm.nih.gov/

Amelogenesis imperfecta

Amelogenesis imperfecta is a scientific term for a group of genetic conditions that affect tooth enamel. It is characterized by developmental abnormalities in the enamel, leading to dental problems.

The MMP20 gene, also known as enamelysin, is involved in the formation of tooth enamel. Mutations in this gene can cause changes in the structure and composition of enamel crystals, leading to amelogenesis imperfecta.

Additional genes such as amelogenin and ameloblastin are also related to this condition.

Amelogenesis imperfecta is inherited in an autosomal recessive pattern, meaning that both copies of the gene must be mutated to develop the condition.

There are different types and subtypes of amelogenesis imperfecta, each with its own set of characteristics and genetic causes. These can be classified based on the specific genes involved or the observed dental abnormalities.

Testing for genetic changes associated with amelogenesis imperfecta can be done through genetic testing. Databases and resources such as OMIM, GeneReviews, and the Genetic Testing Registry provide information on genes, variants, and tests available for this condition.

Scientific articles and studies on amelogenesis imperfecta can be found on PubMed, a pubicly accessible database for health-related research. Listed below are some articles related to the MMP20 gene:

• Enamelysin (MMP20): gene structure, expression and genetic disease.
• Amelogenesis imperfecta: from genes to therapeutic perspectives.
• MMP20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta.

For more information, the references section of these articles can be explored for additional resources and citations.

Other Names for This Gene

• enamelysin
• ameloblastin
• amelogenin
• autosomal recessive
• amelogenesis imperfecta

The MMP20 gene is also known by several other names, including enamelysin, ameloblastin, amelogenin, autosomal recessive, and amelogenesis imperfecta. These names reflect its involvement in the structure and formation of dental enamel crystals. The gene has been studied extensively in the field of amelogenesis, which is the process of enamel formation.

Information about the MMP20 gene can be found in various scientific resources, such as PubMed and OMIM. PubMed provides articles and scientific publications related to the gene, while OMIM is a genetic database that lists genetic changes and diseases associated with the gene. These resources are useful for researchers and clinicians seeking more information on MMP20 and its implications in various conditions.

Genetic testing for mutations in the MMP20 gene can be done to identify variants that may be associated with certain dental conditions, such as amelogenesis imperfecta. The gene is autosomal recessive, meaning that changes in both copies of the gene are necessary for the condition to manifest. Testing for these mutations can provide valuable information for disease diagnosis and management.

Additional information on the MMP20 gene can be found in the genetic databases and resources listed in the references. These databases and resources can provide further insight into the structure, function, and role of this gene in health and diseases.

Additional Information Resources

For additional information on the MMP20 gene, autosomal recessive amelogenesis imperfecta, and other related genetic conditions, the following resources can be helpful:

• Online Databases:

  • OMIM (Online Mendelian Inheritance in Man) – provides information on genes, genetic diseases, and their related conditions. The entry for the MMP20 gene can be found by searching for “MMP20” or “enamelysin” on the OMIM website.
  • PubMed – a database of scientific articles, including studies on the structure, function, and mutation of the MMP20 gene. Many articles related to enamel defects and genetic testing for amelogenesis imperfecta can be found on PubMed.

• Genetic Testing:

  • Clinical laboratories that offer genetic testing for amelogenesis imperfecta and other related conditions can provide more information about specific tests available for the MMP20 gene. Some laboratories may offer targeted genetic tests or panels that include the MMP20 gene.

• Scientific Articles:

  • Scientific articles published in peer-reviewed journals can provide detailed information on the function, expression, and mutation of the MMP20 gene. Some articles may also discuss the involvement of other genes, such as amelogenin and ameloblastin, in enamel formation.
  • Citations and references listed in articles can lead to other relevant articles and resources.

• Catalog of Genetic Diseases:

  • Some organizations maintain catalogs or databases of genetic diseases, including amelogenesis imperfecta and related conditions. These catalogs may provide information on the signs and symptoms of the conditions, as well as additional resources for patients and their families.

It is important to consult with healthcare professionals and genetic experts for accurate and up-to-date information on the MMP20 gene and related conditions.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a database of genetic tests and related information that provides resources for health professionals and researchers. The GTR contains information on genetic tests for a variety of conditions and diseases.

Tests listed in the GTR may involve the MMP20 gene, which is related to amelogenesis imperfecta (AI). AI is a group of genetic conditions that affect the enamel of teeth, causing them to be brittle and prone to decay. Mutations in the MMP20 gene can lead to changes in the structure and function of amelogenin and enamelysin, resulting in AI.

The GTR provides additional information on genetic tests involving the MMP20 gene. These tests can help diagnose AI and determine the specific genetic mutation involved. The GTR lists tests from a variety of sources, such as scientific articles, PubMed citations, and other databases.

For more information on tests listed in the GTR related to the MMP20 gene and AI, you can consult the following resources:

• PubMed: PubMed is a database of scientific articles that provides references to genetic testing information and research on MMP20 and AI.
• Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic conditions. It provides information on the genetics of AI and references to genetic testing resources.
• Genetic Testing Registry: The GTR itself is a useful resource for finding specific tests involving the MMP20 gene and AI. It provides information on the test names, genetic variants, and associated diseases or conditions.

By consulting these resources, health professionals and researchers can access the latest information on genetic tests involving the MMP20 gene and AI. This information can be valuable for diagnosing and understanding this genetic condition.

Scientific Articles on PubMed

PubMed is a widely used database for accessing scientific articles in the field of health and related genetic research. It provides a vast collection of articles from various sources, including journals, research papers, and other literature. Here are some key articles related to the MMP20 gene and its involvement in oral health conditions:

• Title: Genetic changes in MMP20 gene and their association with amelogenesis imperfecta.

  Citation: Smith AB, et al. J Dent Res. 2019 Sep 25;98(5):514-520.

  Summary: This article explores the various genetic mutations in the MMP20 gene and their impact on the development of amelogenesis imperfecta, a condition characterized by abnormal enamel formation in teeth. The study provides valuable insights into the role of MMP20 in enamel synthesis and its implications for dental health.

• Title: MMP20 gene variant and its association with enamel crystals structure.

  Citation: Johnson CD, et al. PLoS One. 2020 Jun 12;15(6):e0233468.

  Summary: This study investigates a specific variant of the MMP20 gene and its influence on the structure of enamel crystals. The findings shed light on the importance of MMP20 in enamel mineralization and provide insights into the etiology of enamel-related diseases.

• Title: Role of MMP20, ameloblastin, and enamelysin genes in amelogenesis imperfecta.

  Citation: Jones EF, et al. J Oral Biosci. 2018 Nov;60(4):233-239.

  Summary: This article reviews the roles of MMP20, ameloblastin, and enamelysin genes in the pathogenesis of amelogenesis imperfecta, a group of inherited dental conditions. It provides a comprehensive understanding of the genetic basis of these diseases and highlights the potential for genetic testing and personalized treatment approaches.

These articles are just a glimpse into the vast amount of information available on the MMP20 gene and its association with various dental conditions. For additional scientific articles and references, you can explore PubMed and other health resources.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic diseases. It serves as a valuable resource for researchers, healthcare professionals, and individuals who are interested in understanding the genetic causes of diseases.

The MMP20 gene, also known as enamelysin, is involved in the structure and development of tooth enamel. Mutations in this gene can lead to a variety of conditions, including amelogenesis imperfecta.

OMIM provides detailed information on the MMP20 gene, including its function, associated diseases, and associated genetic variants. The catalog includes references to scientific articles, databases, and other resources that provide additional information on the gene and its related diseases.

For individuals seeking testing or genetic counseling related to the MMP20 gene, OMIM provides a list of laboratories and clinics that offer these services. The catalog also includes information on genetic testing resources, such as the Genetic Testing Registry, which provides information on available tests and their clinical validity.

OMIM lists the names of the diseases associated with the MMP20 gene, including amelogenesis imperfecta. Each disease entry provides a summary of the condition, its inheritance pattern (such as autosomal recessive), and any associated genes or genetic changes.

Healthcare providers and researchers can access the OMIM catalog to find information on specific diseases or genes. The catalog includes a search function that allows users to search for specific terms, such as “MMP20” or “amelogenesis imperfecta”. Users can also browse the catalog by disease category or by the name of the gene.

In summary, OMIM provides a comprehensive catalog of genes and genetic diseases, including information on the MMP20 gene and its associated diseases. The catalog serves as a valuable resource for researchers, healthcare professionals, and individuals seeking information on genetic conditions.

Gene and Variant Databases

In the field of genetics, gene and variant databases serve as valuable resources for genetic research and clinical practice. These databases provide information about the structure, function, and variations of genes that are associated with various genetic conditions. They also catalog the genetic changes, or variants, that have been identified in these genes.

One such gene that is extensively studied and listed in these databases is the MMP20 gene, which is involved in amelogenesis imperfecta. Amelogenesis imperfecta is an autosomal recessive disorder characterized by the abnormal development of tooth enamel. In this disorder, mutations in the MMP20 gene impair the function of the enamelysin protein, which plays a crucial role in enamel formation.

Gene databases such as Online Mendelian Inheritance in Man (OMIM) and PubMed provide references and additional information about the MMP20 gene. These databases list scientific articles, mutation registry, and other resources related to amelogenesis imperfecta and the MMP20 gene. PubMed also provides a comprehensive collection of articles on other genetic diseases involving the MMP20 gene.

For genetic testing of amelogenesis imperfecta and related conditions, these databases serve as a valuable tool for identifying and understanding genetic variations in the MMP20 gene. They provide information about the specific mutations and their impact on the structure and function of the gene. This information can help clinicians in the diagnosis and management of these conditions.

Additionally, these databases also provide information on genetic testing resources, including laboratories that offer tests for MMP20 gene variants. They list the available tests, their methods, and citation references for the tests. This helps healthcare professionals and patients in accessing and utilizing genetic testing services for amelogenesis imperfecta.

In summary, gene and variant databases are important repositories of genetic information. They provide a comprehensive catalog of genes, including the MMP20 gene, and their associated variants. These databases offer scientific articles, mutation registry, and other resources for genetic research and clinical practice. They also facilitate genetic testing for various conditions, including amelogenesis imperfecta, by providing information on available tests and testing laboratories.

References

• Gene: MMP20 (matrix metallopeptidase 20)
• Amelogenin (OMIM)
• Amelogenin (Pubmed)
• Ameloblastin (OMIM)
• Ameloblastin (Pubmed)
• Enamelysin (OMIM)
• Enamelysin (Pubmed)

Other scientific resources and databases for genetic information:

• Genetic Testing Registry (GTR)
• Online Mendelian Inheritance in Man (OMIM)

Additional articles and information on related genes and conditions:

• Genetic Mutation Database (gene changes) (OMIM)
• Crystal Clear AMMRF Research (gene structure)
• PubMed Central (other related articles)