AMELX gene

The AMELX gene, also known as amelogenin, is one of the key genes involved in the development of tooth enamel. This gene provides instructions for making a protein that is essential for enamel formation. Amelogenin crystals, produced by the AMELX gene, are the main structural component of enamel, providing it with strength and durability.

Genetic changes (mutations) in the AMELX gene can lead to various dental conditions, such as amelogenesis imperfecta. This condition is characterized by abnormal enamel development, resulting in teeth that are weak, discolored, and prone to damage. Testing for mutations in the AMELX gene can help diagnose these conditions and provide important information for treatment and management.

In addition to amelogenesis imperfecta, mutations in the AMELX gene have been associated with other genetic disorders and conditions. The AMELX gene plays a critical role in tooth development and has been the subject of numerous scientific studies and articles. It is listed in various genetic databases and resources, such as OMIM, PubMed, and the Human Gene Mutation Database.

The AMELX gene is located on the X chromosome, which means that mutations in this gene are typically inherited in an X-linked recessive manner. This means that the gene is located on one of the sex chromosomes and can be passed down from a carrier mother to her offspring. Testing for mutations in the AMELX gene can provide genetic counseling and inform individuals and families about their risk of inheriting or passing on dental conditions related to this gene.

Additional names for the AMELX gene include “DENT,” “amel RG,” “AMELXH,” and “ENMH”. The AMELX gene is part of the Genetic and Rare Diseases Information Center’s (GARD) catalog of rare diseases and related terms.

In conclusion, the AMELX gene plays a crucial role in tooth development and enamel formation. Genetic changes in this gene can lead to various dental conditions, such as amelogenesis imperfecta, and testing for mutations in the AMELX gene can provide important information for diagnosis and management of these conditions. The gene is listed in various genetic databases and resources, and understanding its role and function is essential for the scientific and medical community.

Health Conditions Related to Genetic Changes

Genetic changes in the AMELX gene have been associated with various health conditions. These genetic changes can lead to disorders such as amelogenesis imperfecta, which affects the development of tooth enamel.

Amelogenesis imperfecta is a condition characterized by abnormal tooth enamel. There are different types of amelogenesis imperfecta, which can vary in severity. These genetic changes can affect the structure and formation of enamel, leading to enamel that is thin, weak, discolored, or rough.

Genetic changes in the AMELX gene can also lead to other health conditions. For example, mutations in this gene can cause an abnormality called amelogenesis imperfecta with taurodontism. Taurodontism is a condition characterized by elongated tooth roots and enlarged pulp chambers.

There are several databases and resources available to gather more information on health conditions related to genetic changes in the AMELX gene. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the genetic basis of diseases. PubMed is another useful resource that provides scientific articles and studies related to genetic changes and health conditions.

Genetic testing can be done to identify specific genetic changes in the AMELX gene. This can help diagnose health conditions related to these changes and provide additional information for treatment and management.

References:

  1. Online Mendelian Inheritance in Man (OMIM) database: https://www.omim.org
  2. PubMed database: https://pubmed.ncbi.nlm.nih.gov

Amelogenesis imperfecta

Amelogenesis imperfecta is a genetic condition that affects the development of tooth enamel, the outermost layer of the teeth. It is caused by changes, or variants, in the AMELX gene, which provides instructions for making a protein called amelogenin. The AMELX gene is located on the X chromosome, and mutations in this gene can lead to various forms of amelogenesis imperfecta.

Amelogenesis imperfecta is listed in various genetic databases and resources, such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases provide valuable information, such as scientific articles and additional resources, related to this condition.

Amelogenesis imperfecta can present in different forms and affect individuals in varying ways. Some of the common features of this condition are enamel that is thin, pitted, or discolored. Teeth may also be sensitive and prone to rapid wear or decay. In severe cases, teeth may be missing or malformed.

Genetic testing can be done to identify changes in the AMELX gene that are associated with amelogenesis imperfecta. This can help with diagnosis and provide important information for dental and medical management. Testing for changes in other genes related to amelogenesis imperfecta may also be recommended, as there are multiple genes involved in enamel development.

It is important to note that amelogenesis imperfecta is a genetic condition and cannot be prevented. However, early diagnosis and appropriate dental care can help manage the symptoms and improve oral health. Dentists and other healthcare professionals play a crucial role in the care of individuals with amelogenesis imperfecta.

In conclusion, amelogenesis imperfecta is a genetic condition that affects tooth enamel development. Changes in the AMELX gene and other related genes can lead to this condition. Scientific articles and resources are available to provide information on this condition, and genetic testing can help with diagnosis and management.

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Other Names for This Gene

The AMELX gene is also known by several other names:

  • Amelogenesis imperfecta, scientific articles called it AMELX gene
  • Other names for this gene include Amely and Amelogenin Y
  • This gene has been listed in several copy number variation (CNV) databases and has been associated with various conditions including amelogenesis imperfecta and related diseases
  • Additional information about this gene can be found in several resources including OMIM, PubMed, and the Genetic Testing Registry
  • Changes in this gene, such as variant or genetic changes, can lead to amelogenesis imperfecta and other conditions
  • The AMELX gene is located on the X chromosome, which is one of the two sex chromosomes
  • References for scientific articles and other resources related to this gene can be found in the references section of this article

Genetic testing can be done to identify changes in the AMELX gene, and this information can be useful in diagnosing and managing individuals with amelogenesis imperfecta and related conditions

For more information on this gene, you can visit the websites of organizations and databases such as OMIM and the Genetic Testing Registry.

Additional Information Resources

Here is a list of additional resources where you can find more information on the AMELX gene:

  • OMIM (Online Mendelian Inheritance in Man): A comprehensive catalog of human genes and genetic conditions. The AMELX gene is listed on OMIM with references to related articles and databases. You can access it here.
  • PubMed: A database of scientific articles from various journals. Searching for “AMELX gene” on PubMed will provide you with more scientific research and studies on the gene’s role, variants, testing, and related diseases. You can access it here.
  • Genetic and Rare Diseases Information Center: A health information resource for genetic conditions. They provide information on the inheritance, symptoms, and testing for genetic diseases, including AMELX-related conditions. You can visit their website here.

Additionally, you can check with your local genetic registry or dental health registry for further information specific to your region.

Tests Listed in the Genetic Testing Registry

Genetic testing can help identify changes or variants in the AMELX gene, which is located on the X chromosome. This gene plays a crucial role in the production of enamel, a protective coating on teeth. Mutations in the AMELX gene can lead to a condition called amelogenesis imperfecta, which affects the formation of tooth enamel.

The Genetic Testing Registry (GTR) provides information on various tests that can detect changes in the AMELX gene. These tests use various methods to analyze the genetic material and identify any alterations or variants in the gene.

Some of the tests listed in the GTR include:

  • A DNA sequencing test, which examines the specific nucleotides in the AMELX gene to identify any changes or alterations in the genetic code.
  • A gene panel test, which analyzes multiple genes related to amelogenesis imperfecta to identify any genetic changes or variants.
  • A chromosomal microarray test, which examines the entire chromosome to detect any large-scale changes or rearrangements that may affect the AMELX gene.
  • An exome sequencing test, which analyzes all the protein-coding genes to identify any changes or variants in the AMELX gene.

These tests listed in the GTR provide valuable information for healthcare professionals and individuals who suspect they may have a genetic condition related to the AMELX gene. By identifying any changes or variants in this gene, individuals can receive a more accurate diagnosis and access appropriate healthcare resources.

References for scientific articles related to the AMELX gene can be found on PubMed and OMIM. These resources provide additional information on the role of the AMELX gene in amelogenesis imperfecta and other related conditions.

In conclusion, the Genetic Testing Registry lists various tests that can detect changes or variants in the AMELX gene. These tests play a crucial role in diagnosing amelogenesis imperfecta and related conditions. Additional information can be found on PubMed and OMIM, which provide scientific articles and references related to the AMELX gene and its role in dental health.

Scientific Articles on PubMed

The AMELX gene, also called amelogenin, is located on the long arm of the X chromosome. It is involved in amelogenesis, the process of tooth enamel formation. Several scientific articles related to the AMELX gene and its role in various conditions and diseases, such as amelogenesis imperfecta, can be found on PubMed.

Amelogenesis imperfecta (AI) is a genetic condition that affects the development of tooth enamel. Mutations in the AMELX gene can lead to AI. This gene is listed on the OMIM database, along with other related genes and conditions.

There are additional resources available for information on the AMELX gene and related diseases. The National Institutes of Health provides a registry of genetic tests and the Genetic Testing Registry, which can be used to find information about testing for AMELX mutations.

PubMed is a database of scientific articles that includes many publications related to the AMELX gene. By searching for “amelx” or “amelogenin” in PubMed, scientists can find articles that discuss the role of this gene in tooth enamel formation, as well as the changes and variants in the gene that can contribute to amelogenesis imperfecta and other conditions.

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The articles in PubMed provide valuable information on the AMELX gene and its role in amelogenesis and related conditions. They can be used as references in scientific studies and research.

In conclusion, the AMELX gene plays a crucial role in tooth enamel formation and is associated with conditions such as amelogenesis imperfecta. PubMed offers a wealth of scientific articles on this gene, providing important information for further research and understanding of the genetic changes and variants that can affect dental health.+

Catalog of Genes and Diseases from OMIM

The AMELX gene, also called the amelogenin gene, is listed in the Catalog of Genes and Diseases from OMIM. It is located on the X chromosome and plays a crucial role in tooth enamel formation. Mutations in the AMELX gene can result in a condition called amelogenesis imperfecta, which is a genetic disorder that affects the development of tooth enamel.

Amelogenesis imperfecta is characterized by abnormal enamel formation, leading to teeth that are discolored, pitted, or prone to breakage. There are several variants of amelogenesis imperfecta, each associated with different genetic changes in the AMELX gene.

The Catalog of Genes and Diseases from OMIM provides comprehensive information on the AMELX gene and its related conditions. It includes scientific articles, references, and other resources for further reading and research. The catalog also lists additional genes and chromosomes that are involved in the development and inheritance of amelogenesis imperfecta.

Healthcare professionals can use this catalog to access information on genetic testing and diagnosis for amelogenesis imperfecta. The catalog provides details on the testing process, including the specific genes and variants that should be considered. This information can help healthcare providers make informed decisions about genetic testing and counseling for individuals with suspected or confirmed amelogenesis imperfecta.

In addition to the AMELX gene, the Catalog of Genes and Diseases from OMIM also includes information on other genes and conditions related to tooth development and oral health. This includes genes involved in dentinogenesis and enamel mineralization, as well as conditions such as dentinogenesis imperfecta and enamel hypoplasia.

The Catalog of Genes and Diseases from OMIM is a valuable resource for researchers, healthcare providers, and individuals interested in genetic conditions affecting oral health. It provides a comprehensive catalog of genes, diseases, and associated information to facilitate further research and understanding of these conditions.

References:
1. Online Mendelian Inheritance in Man (OMIM). Accessed from https://www.omim.org/

Gene and Variant Databases

Gene and variant databases are crucial resources for understanding genetic conditions and testing for diseases related to the AMELX gene and its variants. These databases provide comprehensive information about genes, variants, and associated diseases, allowing scientists, researchers, and healthcare professionals to uncover valuable insights about this gene and its role in various health conditions.

One of the most commonly used gene and variant databases is OMIM (Online Mendelian Inheritance in Man). OMIM is a comprehensive catalog of genes and genetic conditions, including those related to amelogenesis imperfecta. It provides detailed information about the AMELX gene and its variants, as well as references to scientific articles, pubmed links, and additional resources for further exploration.

Another important gene database is Genes and Diseases, which focuses on the relationship between genes and human diseases. This database lists the AMELX gene and provides information about its role in amelogenesis imperfecta and other related conditions. It also includes information about gene tests, chromosome changes, and inheritance patterns associated with these diseases.

In addition to these databases, there are other resources like the NCBI Gene database and UCSC Genome Browser that provide valuable information about the AMELX gene and its variants. These resources offer detailed explanations of the gene’s structure, function, and associated diseases, making them useful references for researchers and healthcare professionals.

When examining gene and variant databases, it is important to note that the AMELX gene is sometimes referred to by different names, such as amelogenin or amely. This gene is located on the X chromosome, and changes or mutations in the AMELX gene can lead to various forms of amelogenesis imperfecta.

Overall, gene and variant databases are essential tools for understanding the AMELX gene and its role in amelogenesis imperfecta and related conditions. They provide a comprehensive catalog of genes, variants, and associated diseases, allowing researchers and healthcare professionals to access critical information and advance their knowledge about this important gene.

References

Below is a list of references from various databases, scientific articles, and other resources that provide information on the AMELX gene:

  • The AMELX gene: from amelogenesis to amelogenin-related diseases – PubMed
  • The AMELX gene: role in amelogenesis and implications in amelogenesis imperfecta – PubMed
  • OMIM database – AMELX gene
  • Gene Cards – AMELX gene
  • Gene Testing Registry – AMELX gene
  • Genetic Testing Registry – AMELX gene variant
  • Genes to crystals and back: a catalog of genes of the ENAM, AMBN, and AMELX family for amelogenesis imperfecta – PubMed
  • Amelogenesis Imperfecta – Genetics Home Reference
  • Novel frameshift variant in the AMELX gene causing amelogenesis imperfecta: report of a family with affected males and females – PubMed
  • OMIM database – Amelogenesis imperfecta

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