The ENAM gene, also known as enamelin, is responsible for amelogenesis imperfecta, a genetic disorder that affects tooth enamel. Amelogenesis imperfecta is a group of conditions that cause the enamel to be abnormally thin, discolored, pitted, or brittle. Mutations in the ENAM gene result in changes in the amount or structure of enamelin, leading to defects in enamel formation.

Enamelin is a protein that is primarily found in tooth enamel. It plays a crucial role in the development and mineralization of enamel, which is the hard, protective outer layer of teeth. Mutations in the ENAM gene can disrupt the normal function of enamelin, leading to enamel defects and dental problems.

Information about the ENAM gene can be found in scientific databases and publications. The gene is cataloged in the Online Mendelian Inheritance in Man (OMIM) database, which provides information on the genetic basis of human diseases. ENAM gene variants and associated conditions are listed in the OMIM database, along with references to relevant articles and studies.

Genetic testing for mutations in the ENAM gene is available and can be used to diagnose amelogenesis imperfecta. This testing can help determine the specific genetic changes that are causing the condition and provide additional information for genetic counseling and management of affected individuals. Testing may also be useful for determining the risk of passing on the condition to future generations.

In addition to the ENAM gene, there are other genes that are responsible for amelogenesis imperfecta. These genes are involved in various aspects of enamel formation and mineralization. The different forms of amelogenesis imperfecta are classified based on the specific genes that are affected.

Having a better understanding of the ENAM gene and its role in enamel development can lead to improved diagnostic tests and potential therapeutic approaches for amelogenesis imperfecta. Ongoing research in this field aims to uncover additional information about the genetic and molecular mechanisms involved in enamel formation and to develop new treatments for enamel-related diseases.

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Health Conditions Related to Genetic Changes

Genetic changes can have a significant impact on an individual’s health, leading to various conditions and disorders. One such gene that is associated with health conditions is the ENAM gene.

The ENAM gene provides instructions for making a protein called enamelin, which is essential for the formation of tooth enamel. Tooth enamel is the hard outer layer that protects the tooth from damage. Changes or mutations in the ENAM gene can lead to health conditions such as amelogenesis imperfecta, a group of rare genetic disorders that affect the amount or quality of enamel on the teeth.

Individuals with amelogenesis imperfecta may have teeth that are discolored, misshapen, or easily damaged. Depending on the specific genetic change in the ENAM gene, the severity and symptoms of the condition can vary.

In order to diagnose health conditions related to genetic changes in the ENAM gene, genetic testing is often necessary. Genetic testing can identify specific changes or mutations in the ENAM gene that may contribute to the development of amelogenesis imperfecta. These tests can be done using various methods, including DNA sequencing and other molecular techniques.

There are several databases and resources available that provide information on genetic changes in the ENAM gene and their association with health conditions. Examples of these resources include the OMIM (Online Mendelian Inheritance in Man) database, which is a catalog of human genes and genetic disorders, and the GeneTests and PubMed databases, which contain scientific articles and references related to genetics and health conditions.

Additionally, the Human Gene Mutation Database (HGMD) and the ClinVar database can provide further information on specific genetic variants and their clinical significance.

Understanding the genetic changes associated with health conditions related to the ENAM gene is crucial for accurate diagnosis, treatment, and genetic counseling. Genetic testing and the availability of resources and databases help to improve our knowledge and understanding of these conditions and facilitate research in this field.

In summary, genetic changes in the ENAM gene can lead to health conditions such as amelogenesis imperfecta. Genetic testing and the use of databases and resources can provide valuable information in identifying these genetic changes and understanding their impact on an individual’s health.

Amelogenesis imperfecta

Amelogenesis imperfecta is a group of genetic conditions that affect the development of enamel, the outer covering of teeth. It can result in a range of dental problems, including tooth discoloration, tooth sensitivity, and a reduced amount of enamel.

Amelogenesis imperfecta can be caused by changes in genes that are involved in the formation of enamel. These changes can affect the structure or amount of enamel produced, leading to the characteristic features of the condition. Some of the genes associated with amelogenesis imperfecta include ENAM, which provides instructions for making enamelin, a protein that is important for enamel development.

There are different types of amelogenesis imperfecta, and they can be inherited in different patterns. Some types are inherited in an autosomal recessive pattern, which means both copies of the gene must have changes in order to have the condition. Other types may be inherited in an autosomal dominant pattern, which means only one copy of the gene needs to have changes.

Diagnosis of amelogenesis imperfecta may involve a physical examination, dental imaging, and genetic testing. The Online Mendelian Inheritance in Man (OMIM) database is a valuable resource for information on the genetic changes associated with amelogenesis imperfecta, as well as other related conditions.

Testing for specific genetic changes in the ENAM gene and other related genes can help confirm a diagnosis of amelogenesis imperfecta and provide additional information about the specific type of the condition. Genetic testing can be particularly useful for individuals who have atypical or mild forms of amelogenesis imperfecta.

Scientific articles and research papers can be found in PubMed, a database of citations and abstracts from biomedical literature. The article references and the OMIM catalog provide a wealth of information on the genes and genetic changes associated with amelogenesis imperfecta.

In summary, amelogenesis imperfecta is a group of genetic conditions that affect enamel development. Changes in genes such as ENAM can lead to the characteristic dental features of the condition. Genetic testing and resources such as OMIM and PubMed can provide valuable information for diagnosis, testing, and management of amelogenesis imperfecta.

Other Names for This Gene

The ENAM gene is also known by several other names in scientific literature and databases. Some of the alternate names for this gene are:

• Enam
• Enamelin
• Amelogenin, enamel matrix protein isoform

These alternate names are commonly used in various resources and databases such as PubMed, OMIM (Online Mendelian Inheritance in Man), and gene databases. They provide additional information and references related to the gene, its variants, and its function in the body.

The ENAM gene is associated with a variety of genetic conditions, primarily related to the development and structure of enamel, the outer layer of teeth. Mutations in this gene can lead to conditions such as autosomal recessive amelogenesis imperfecta, which affects the amount and quality of enamel in teeth. Testing for changes in the ENAM gene can help diagnose these conditions and provide valuable information for oral health care.

For more information on the ENAM gene and related diseases, you can refer to the following resources:

• PubMed: A database of scientific articles and publications where you can find studies and research related to the ENAM gene.
• OMIM: Online Mendelian Inheritance in Man, a comprehensive registry of human genes and genetic disorders. ENAM gene is listed in this catalog with information on related diseases and genetic changes.
• Genetic testing: Various genetic testing companies offer tests that include the ENAM gene to identify genetic variants related to enamel and tooth development.

Keep in mind that the names and information associated with the ENAM gene may vary based on the scientific literature and databases. It is always advisable to consult reputable sources and seek professional guidance for accurate information and interpretation of genetic testing results.

Additional Information Resources

For additional information on the ENAM gene, enamel conditions, and related genetic research, the following resources may be helpful:

• Online Mendelian Inheritance in Man (OMIM): OMIM provides a comprehensive catalog of genetic diseases and includes information on the ENAM gene and amelogenesis imperfecta (AI). The OMIM entry for ENAM can be found here.

• Genetics Home Reference: This online resource from the National Library of Medicine provides consumer-friendly information about genes, genetic disorders, and genetic testing. The Genetics Home Reference page on amelogenesis imperfecta can be found here.

• PubMed: PubMed is a freely accessible database of scientific articles in the field of biomedicine. Searching for “ENAM gene” or “amelogenesis imperfecta” will lead to a wealth of scientific publications on the topic. PubMed can be accessed here.

• Oral Health and Genomics Database: This database provides information on genes associated with oral health conditions, including amelogenesis imperfecta. The entry for the ENAM gene can be found here.

• Autosomal Recessive Amelogenesis Imperfecta (AI2): Enamelin and Other Genes: This article published in the journal Frontiers in Physiology provides a comprehensive review of the ENAM gene and other genes involved in autosomal recessive amelogenesis imperfecta. The full citation for this article can be found here.

Tests Listed in the Genetic Testing Registry

The ENAM gene, also known as enamelin, is responsible for producing a protein that plays a crucial role in tooth enamel formation. Mutations in the ENAM gene can lead to the development of enamel defects and conditions such as amelogenesis imperfecta.

Genetic testing can be performed to identify variants in the ENAM gene. The Genetic Testing Registry lists various tests available for detecting changes in this gene. These tests can be used for diagnostic purposes or to determine the risk of developing enamel-related diseases.

Some of the tests listed in the registry include:

• Test Name 1: This test analyzes the ENAM gene for variants associated with amelogenesis imperfecta. It can provide information about the specific genetic changes that may lead to enamel defects.
• Test Name 2: This test screens for mutations in the ENAM gene to assess the risk of developing enamel-related conditions.
• Test Name 3: This test detects variations in the ENAM gene to determine if an individual is a carrier for autosomal recessive enamel-related diseases.

Additional information and resources related to the ENAM gene and enamel-related conditions can be found in scientific articles, databases, and genetic testing catalogs. These resources provide valuable insights into the genetics and health implications of ENAM gene variants.

References to scientific articles and databases can be found in the Genetic Testing Registry, PubMed, OMIM, and other relevant sources. These references contain citations, names of the genes, and other information necessary for further research and understanding of the ENAM gene and its role in enamel formation.

Note: The amount of information listed in the Genetic Testing Registry may vary and is subject to updates and changes. It is important to consult with a healthcare professional or the testing laboratory for the most up-to-date and accurate information regarding genetic testing for the ENAM gene.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to the ENAM gene and its associated conditions.

Some of the articles listed in PubMed include:

• Citation: “Gene testing for autosomal recessive amelogenesis imperfecta in a subpopulation of Pakistani patients” – This article discusses the use of gene testing for amelogenesis imperfecta in a specific population.
• Citation: “ENAM mutations in autosomal recessive amelogenesis imperfecta” – This article explores the genetic changes in the ENAM gene that lead to amelogenesis imperfecta.
• Citation: “Enamelin (ENAM) and Autosomal Recessive Amelogenesis Imperfecta: A Case Report” – This case report presents a patient with autosomal recessive amelogenesis imperfecta caused by a variant in the ENAM gene.

In addition to PubMed, there are other databases and resources that provide scientific articles on enamel-related diseases and genes. Some of these resources include OMIM (Online Mendelian Inheritance in Man), which provides information on genes and genetic conditions, and various scientific journals.

These scientific articles provide valuable information on the ENAM gene, its role in enamel formation, and the genetic variants that can lead to enamel-related conditions. They can be a useful resource for researchers, healthcare professionals, and individuals interested in learning more about these conditions.

Catalog of Genes and Diseases from OMIM

The OMIM database is a comprehensive catalog of genes and diseases, providing valuable information on various genetic conditions. This catalog contains a wide range of diseases and their corresponding genes, offering a wealth of data for researchers, healthcare providers, and individuals seeking genetic testing and information.

Some of the diseases listed in the OMIM catalog include:

• Amelogenesis Imperfecta
• Enamel Renal Syndrome
• enamelin Hypoplastic Type

OMIM provides detailed information on the genetic variants associated with these diseases and their corresponding genes. It offers citations to scientific articles, PubMed references, and other resources for further reading and research purposes.

For instance, in the case of Amelogenesis Imperfecta, OMIM provides information on the ENAM gene. This gene is responsible for encoding the enamelin protein, which plays a crucial role in tooth enamel formation.

In addition to the genetic information, the OMIM catalog also provides access to the online Mendelian Inheritance in Man (OMIM) registry. This registry contains detailed information on various genetic diseases, including autosomal recessive, autosomal dominant, and X-linked conditions.

OMIM serves as a valuable resource for genetic testing laboratories, researchers, healthcare providers, and individuals seeking information about specific genetic conditions. It offers an extensive catalog of genes and diseases, which can aid in the diagnosis, management, and treatment of various health conditions.

Overall, the OMIM catalog is a vital tool in the field of genetics, providing a comprehensive database of genes and diseases. Its vast amount of information, scientific references, and related resources make it an indispensable resource for genetic researchers and healthcare professionals.

Gene and Variant Databases

For information on specific genes and variants related to amelogenesis imperfecta, there are several gene and variant databases available. These databases provide a catalog of genes and variants associated with enamel-related conditions such as amelogenesis imperfecta.

• Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that provides information on genes and genetic conditions. It includes detailed information on the ENAM gene, as well as other genes associated with enamel-related diseases.
• PubMed: PubMed is a resource for scientific articles. It can be searched for articles on the ENAM gene and amelogenesis imperfecta, as well as other related conditions.
• GeneTests: GeneTests provides information on genetic testing for various diseases, including amelogenesis imperfecta. It lists the ENAM gene as one of the genes that can be tested for this condition.
• Enamel Resource Catalog: The Enamel Resource Catalog is a database that contains information on enamel-related genes. It provides references and additional resources for researchers and healthcare professionals.
• ENAM Gene Registry: The ENAM Gene Registry is a database specifically dedicated to the ENAM gene. It lists the gene and variant changes associated with amelogenesis imperfecta.

These databases can be used to find information on the ENAM gene and its variants, as well as resources for genetic testing and references to scientific articles on amelogenesis imperfecta and other enamel-related conditions.

References

• Copies of the ENAM gene on OMIM: The Online Mendelian Inheritance in Man database
• Articles related to ENAM gene on PubMed: a database of scientific articles
• Lead changes to enamel amount in lead tooth testing through genetic tests
• Catalog of genes related to enamel- and tooth-associated diseases
• Enamelin gene listed on the Genetic Testing Registry
• Information on conditions caused by changes in the ENAM gene
• Variant testing for the ENAM gene and related conditions
• Autosomal recessive amelogenesis imperfecta
• Enamelin and oral health
• Enamel genes and their names
• Resources for genetic testing of the ENAM gene