The EFEMP2 gene (also known as fibrillin-5) is a gene that plays a crucial role in the development and maintenance of connective tissues. It belongs to the family of EGF-containing fibulin-like extracellular matrix proteins. The gene is listed in various scientific databases and resources, including PubMed, OMIM, and Genet. In addition, mutations in this gene have been associated with several diseases, such as cutis laxa and other genetic conditions.

Studies have found that changes in the EFEMP2 gene can lead to the localization of proteins in the extracellular matrix, resulting in the development of certain variants of diseases. These variants have been documented and cataloged in the scientific literature, with references to relevant genes and mutations.

Health professionals can use this information to provide additional testing and genetic counseling to individuals with suspected EFEMP2 gene mutations. By referring to medical databases and registries, they can access the most up-to-date information on the variants of diseases associated with this gene, as well as available diagnostic tests and treatments.

Overall, the EFEMP2 gene is a key player in the development and maintenance of connective tissues. Its role in various genetic conditions underscores the importance of genetic testing and research in understanding and managing these diseases.

Genetic changes in the EFEMP2 gene have been associated with several health conditions. The EFEMP2 gene, also known as the fibulin-4 gene, is located on chromosome 11q13 and plays a role in the production of the protein fibulin-4. This protein is involved in the formation and maintenance of connective tissues in the body.

One of the health conditions related to genetic changes in the EFEMP2 gene is cutis laxa, a rare connective tissue disorder. Cutis laxa is characterized by loose, sagging skin and can affect various parts of the body, including the face, neck, and limbs. Mutations in the EFEMP2 gene can result in a loss of function of the fibulin-4 protein, leading to abnormalities in connective tissue formation.

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Further scientific research and additional testing are needed to fully understand the genetic changes and their specific effects on health. However, current knowledge suggests that mutations in the EFEMP2 gene are likely to be rare and are inherited in an autosomal recessive manner.

There are several resources and databases available for further information on health conditions related to genetic changes in the EFEMP2 gene. The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive catalog of human genes and genetic disorders. The OMIM entry for the EFEMP2 gene provides detailed information on the various variants and mutations associated with conditions such as cutis laxa.

Additionally, the Genetic Testing Registry (GTR) provides information on available genetic tests for the EFEMP2 gene and related conditions. This resource can help individuals and healthcare providers find laboratories that offer genetic testing for specific gene changes.

For further scientific articles and references, PubMed is a valuable resource. Searching for keywords such as “EFEMP2 gene” or “fibulin-4 gene” can provide access to research studies and articles related to the genetic changes and associated health conditions.

In summary, genetic changes in the EFEMP2 gene have been associated with health conditions such as cutis laxa. Further research and testing are necessary. Resources such as OMIM, GTR, and PubMed provide additional information and references about these conditions and related genes.

See also  MED13L syndrome

Cutis laxa

Cutis laxa is a rare connective tissue disease characterized by loose and wrinkled skin. It is caused by mutations in various genes, including the EFEMP2 gene, which codes for the EGF-containing fibulin-like extracellular matrix protein 2. Cutis laxa has a wide range of clinical manifestations, with different variants and associated conditions.

The EFEMP2 gene is listed in the OMIM database, which provides comprehensive information on genetic conditions. The gene’s localization, changes, and associated mutations can be found in scientific articles listed on PubMed. However, additional resources such as genetic testing and family registries are required to obtain more detailed information.

Genetic testing can identify specific variants in the EFEMP2 gene and provide important information for diagnosis and management. Family registries also play a crucial role in connecting individuals with cutis laxa and sharing information about the disease.

There are several conditions related to cutis laxa, which may have overlapping features but different genetic causes. Some of these conditions include autosomal recessive cutis laxa, ATP6V0A2-related cutis laxa, and fibulin-4-related cutis laxa.

For individuals and families affected by cutis laxa, it is important to consult with healthcare professionals and genetic counselors for comprehensive evaluation and management. These professionals can provide information on available resources, such as support groups, research studies, and clinical trials.

In conclusion, cutis laxa is a rare genetic disease caused by various mutations in different genes, including the EFEMP2 gene. The disease has different variants and associated conditions, making accurate diagnosis and management challenging. However, with advances in genetic testing and the availability of resources, individuals and families affected by cutis laxa can access valuable information and support.

Other Names for This Gene

  • Catalog of Genes and Diseases
  • PubMed articles on the EFEMP2 gene
  • Connective Tissue Gene Testing Registry
  • Listed variants of recessive EFEMP2-related proteins
  • EGF-containing fibulin-like extracellular matrix protein 2
  • Additional genes and diseases related to EFEMP2
  • Mutations in the EFEMP2 gene
  • Health and Disease for EFEMP2
  • OMIM entries for EFEMP2 gene
  • References for EFEMP2 gene in scientific journal articles
  • Localization data for EFEMP2 gene

Additional Information Resources

Here are some additional resources that you can consult for more information on the EFEMP2 gene:

  • Genetic Testing: You can consider genetic testing to identify variants, mutations, and other changes in the EFEMP2 gene. Genetic tests can be helpful in confirming a diagnosis and determining the inheritance pattern of EFEMP2-related diseases.
  • Databases and Registries: There are several databases and registries that provide information on genetic conditions associated with EFEMP2 variants. These resources can help you find detailed information on specific EFEMP2 gene variants and related diseases. Some of the popular databases include the GeneReviews Catalog of Genes and Diseases, OMIM (Online Mendelian Inheritance in Man), and the NIH Genetic Testing Registry.
  • Scientific Articles: Numerous scientific articles have been published on EFEMP2 gene variants and related diseases. These articles provide in-depth information on the genetic changes, clinical manifestations, diagnosis, and management of EFEMP2-related conditions. PubMed is a reliable resource for finding scientific articles on this topic.
  • Patient Support Groups: Joining patient support groups can provide valuable insights into living with EFEMP2-related diseases. These groups often have resources and information on EFEMP2 gene variants, available treatments, and support networks for affected individuals and their families.
  • Health Websites: Many health websites offer information on genetic conditions, including EFEMP2-related diseases. You can find general information on the EFEMP2 gene and its associated diseases on reputable health websites such as the National Institutes of Health (NIH) website, Mayo Clinic, or MedlinePlus.

It is important to consult reliable sources and discuss with healthcare professionals when seeking information or genetic testing for EFEMP2-related conditions.

Tests Listed in the Genetic Testing Registry

The EFEMP2 gene, also known as the fibulin-4 gene, encodes for a protein that is part of the fibulin-like family of proteins. Mutations in this gene have been found to be related to a number of connective tissue diseases, including cutis laxa.

See also  NEB gene

In the Genetic Testing Registry (GTR), there are tests listed for various diseases and conditions associated with EFEMP2 gene mutations. These tests can provide important information about an individual’s health and the presence of genetic variants in this gene.

The GTR is a centralized catalog of genetic tests that provides names, descriptions, and additional resources for genetic testing. The registry includes information from various databases, such as OMIM and PubMed, and references articles and other resources for further information.

Testing for EFEMP2 gene mutations can help diagnose conditions like cutis laxa and other connective tissue diseases. The tests listed in the GTR can identify specific variants in the EFEMP2 gene and provide localization and functional information related to these changes.

It is important to note that EFEMP2 gene mutations are mostly associated with autosomal recessive inheritance, meaning that both copies of the gene need to be affected for a person to develop the related diseases. Testing can help determine whether an individual carries these mutations and may be at risk of passing them onto future generations.

Overall, the tests listed in the GTR provide valuable information about the EFEMP2 gene and its role in various diseases and conditions. They offer a comprehensive resource for healthcare professionals and individuals seeking genetic testing for conditions related to EFEMP2 gene mutations.

Scientific Articles on PubMed

PubMed is a comprehensive database of scientific articles that provides valuable information on various genetic diseases, including those caused by recessive mutations in the EFEMP2 gene. Through PubMed, researchers can access a wide range of articles related to fibulin-like proteins and their role in connective tissue diseases.

Researchers can use PubMed to explore studies and research articles on EFEMP2 gene and its variants. The database provides a vast collection of articles that describe the genetic changes associated with EFEMP2 and the related diseases. These articles offer valuable insights into the molecular mechanisms underlying these conditions and provide a foundation for further research.

By searching PubMed, researchers can uncover information about the localization of EFEMP2 gene expression, its role in the development of cutis laxa and other connective tissue disorders, and the impact of specific mutations or variants on protein function. They can also find references to additional databases and resources that provide further information on EFEMP2 and related genes.

PubMed provides access to articles that discuss the use of genetic testing and diagnostic tools for EFEMP2-related diseases. These articles describe the various tests available, such as sequencing and mutation analysis, which can help in identifying disease-causing mutations and confirming a diagnosis.

The articles listed on PubMed also cover the clinical manifestations and management strategies for EFEMP2-related conditions. They provide insights into the prognosis, treatment options, and available resources for patients and their families. These articles can be a valuable resource for healthcare professionals seeking information on how to diagnose and manage these diseases.

In addition to articles specifically focused on the EFEMP2 gene, PubMed also contains articles that explore the broader field of connective tissue diseases and related conditions. This can provide researchers with a broader perspective on the EFEMP2 gene’s role within the context of other genes and proteins involved in these diseases.

Overall, PubMed is a valuable resource for researchers and healthcare professionals looking to explore the scientific literature on the EFEMP2 gene and its related diseases. It offers a wide range of articles that cover various aspects of these conditions, from genetic changes and protein localization to diagnostic testing and management strategies. By leveraging the information available in PubMed, researchers can further advance our understanding of EFEMP2-related diseases and develop new therapeutic approaches.

Catalog of Genes and Diseases from OMIM

The catalog of genes and diseases from OMIM (Online Mendelian Inheritance in Man) provides a comprehensive list of genes and their associated diseases. OMIM is a comprehensive registry of human genes and genetic disorders, offering extensive information on genetic variants, disease conditions, and health testing.

OMIM catalogs additional genes that are related to the EFEMP2 gene, which is responsible for the production of EGF-containing fibulin-like extracellular matrix protein 2. The catalog includes information on the genetic variants, proteins, and mutations associated with this gene.

See also  OPN1LW gene

The catalog provides information on the genetic localization of these genes and the variant proteins they produce. It lists the diseases and conditions associated with these genes, along with information on testing, health resources, and scientific articles related to them.

OMIM also provides references to other databases and scientific resources that can provide further information on these genes and diseases. The catalog includes changes to the gene names and variant proteins, allowing for easy access to the most up-to-date information.

For example, the catalog lists the genetic changes associated with Cutis Laxa, a recessive connective tissue disease. It provides information on the genetic mutations and variant proteins that contribute to this condition.

By utilizing the catalog of genes and diseases from OMIM, researchers and healthcare professionals can access valuable information on genetic disorders, allowing for better understanding, diagnosis, and treatment of these conditions.

Gene and Variant Databases

Gene and variant databases are valuable resources for researchers and clinicians studying the EFEMP2 gene and its associated variants. These databases provide comprehensive information on the gene, its variants, and their effects on health and disease.

Online Mendelian Inheritance in Man (OMIM): OMIM is a database that catalogues genetic conditions and the genes associated with them. It provides detailed information on the EFEMP2 gene and its mutations, as well as clinical descriptions, references to scientific articles, and links to other resources.

PubMed: PubMed is a database of scientific articles and publications. Researchers can find articles related to EFEMP2 and its variants by searching for keywords such as “EFEMP2 gene” or “EFEMP2 mutations”. These articles contain valuable information on the protein’s function, localization, and changes associated with diseases.

Genetic Testing Registry (GTR): GTR is a database that lists genetic tests available for specific genes and variants. It includes information on different tests for the EFEMP2 gene, including gene sequencing, deletion/duplication analysis, and variant-specific tests. GTR also provides details on the laboratories offering these tests and their locations.

Eurogentest: Eurogentest is a network of laboratories and organizations involved in genetic testing. Their online database provides information on genetic tests for a wide range of genes and variants, including EFEMP2. It includes details on the test methodologies used, the laboratories offering the tests, and additional resources for patients and healthcare providers.

Connective Tissue Gene Tests (CTGT): CTGT is a genetic testing resource specifically focused on genes related to connective tissue diseases. They offer tests for genes such as EFEMP2 and provide detailed information on the diseases associated with these genes, the testing options available, and resources for genetic counseling and patient support.

Additional Resources: In addition to these databases, there are also various other online resources that provide information on the EFEMP2 gene and its variants. These include gene and variant databases specific to certain diseases, such as Cutis Laxa, as well as resources provided by genetic research organizations and societies.

By utilizing these databases and resources, researchers and clinicians can access the latest information on EFEMP2 gene variants, their implications for health and disease, and the available testing options. This information is crucial for understanding the genetic basis of diseases and for providing accurate diagnoses and personalized treatment approaches.


  • Egf-Containing Fibulin-Like Extracellular Matrix Protein 2 (EFEMP2) gene: Provides information on the EFEMP2 gene and its role in connective tissue conditions. Available at: [URL]
  • Online Mendelian Inheritance in Man (OMIM): A database that contains information related to genetic diseases and their associated genes. Accessed at: [URL]
  • Cutis Laxa Conditions Registry: A registry that documents cases of cutis laxa and related disorders. Includes information on EFEMP2 gene mutations. Available at: [URL]
  • PubMed: Provides references to scientific articles on EFEMP2 gene mutations, genetic testing, and related diseases. Accessed at: [URL]
  • Other Genes Related to Connective Tissue Disorders: A catalog of genes that are associated with connective tissue disorders, including EFEMP2. Available at: [URL]