The ECM1 gene is responsible for encoding a protein known as extracellular matrix protein 1. This protein is involved in various biological processes and is found in many different tissues and cells throughout the body. Variations in the ECM1 gene can lead to the development of certain genetic conditions, including lipoid proteinosis, a rare autosomal recessive disorder.
Pakistani scientists have conducted extensive research on the ECM1 gene and its variants. They have identified specific changes in the gene that are associated with lipoid proteinosis and other related disorders. These findings have provided valuable insights into the underlying molecular mechanisms and have opened up new possibilities for genetic testing and diagnosis.
In addition to the Pakistani researchers, scientists from other countries have also contributed to the understanding of the ECM1 gene. Many scientific articles have been published in reputable journals, including the Journal of Clinical Genetics and the Journal of Molecular Medicine. These articles provide detailed information on the gene, its functions, and its role in various diseases and conditions.
To access additional information on the ECM1 gene, researchers and healthcare professionals can refer to various resources such as the Online Mendelian Inheritance in Man (OMIM) database and the National Center for Biotechnology Information’s PubMed catalog. These resources provide comprehensive information on the gene, including its molecular structure, related diseases, and available genetic testing options.
The ECM1 gene is part of a larger family of genes that encode proteins involved in the extracellular matrix. This protein network is essential for the structural integrity and function of many tissues and organs, including the skin, blood vessels, and connective tissues. The ECM1 gene plays a central role in maintaining the balance of these proteins, and any changes to the gene can disrupt this delicate equilibrium.
Given the importance of the ECM1 gene and its role in various genetic conditions, it is crucial to continue exploring and researching its functions. Ongoing studies and genetic testing can help in identifying new variants and understanding their implications for human health. This will further expand our knowledge of the ECM1 gene and its potential therapeutic applications.
As of August 2020, the most expensive drug in America is Myalept, a drug used to treat leptin deficiency. A month’s worse of this drug costs $71, 306 per month, according to research from GoodRx. Myalept is known as an “orphan drug” because it’s intended to treat a rare disease.
Health Conditions Related to Genetic Changes
Genetic changes in the ECM1 gene can be associated with a variety of health conditions. These changes can be identified through genetic testing, which can provide valuable information about an individual’s health.
Additional resources for information on genetic changes in the ECM1 gene and related health conditions can be found in scientific journals, online databases, and genetic testing laboratories.
The ClinGen database, for example, is a central resource for cataloging genetic changes and associated health conditions. It provides a comprehensive registry of genetic variants and their clinical significance.
The OMIM database (Online Mendelian Inheritance in Man) is another valuable resource that provides information on diseases and conditions associated with genetic changes. It includes references to scientific articles and provides detailed information on genes, proteins, and diseases.
In the case of ECM1 gene changes, one health condition that can be related is lipoid proteinosis. Lipoid proteinosis is a rare genetic disorder characterized by the buildup of abnormal proteins in various tissues and organs.
Genetic testing for lipoid proteinosis typically involves sequencing the ECM1 gene to identify specific changes or variants that may be present. This information can be used to make an accurate diagnosis and guide treatment decisions.
In some cases, changes in the ECM1 gene may be specific to certain populations or ethnicities. For example, a specific variant of the ECM1 gene has been identified in Pakistani families with lipoid proteinosis.
Understanding the molecular and genetic changes in the ECM1 gene is crucial for advancing research and improving diagnosis and treatment of lipoid proteinosis and other related conditions.
Overall, genetic changes in the ECM1 gene can have a significant impact on an individual’s health. Genetic testing and the resources available through databases like ClinGen and OMIM can provide valuable information for understanding and managing these conditions.
Lipoid proteinosis
Lipoid proteinosis, also known as hyalinosis cutis et mucosae, is a rare autosomal recessive genetic disorder characterized by the buildup of a protein called hyalin in various tissues. This condition is caused by mutations in the ECM1 gene.
Testing for lipoid proteinosis can be performed through genetic testing, which involves analyzing the ECM1 gene for changes or variants. Genetic testing can help confirm a diagnosis and provide valuable information for genetic counseling and management of the condition.
Information on lipoid proteinosis can be found in various resources, including online databases and scientific articles. The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive catalog of genetic diseases and their associated genes. Lipoid proteinosis is listed in OMIM under the entry number 247100.
In addition to OMIM, other databases such as PubMed and the ClinVar database can provide additional references and articles related to lipoid proteinosis. These resources can offer further insight into the genetic changes, molecular mechanisms, and clinical features of the condition.
Lipoid proteinosis has been reported in various populations worldwide, but it appears to be more prevalent in certain regions such as Pakistan. Some studies suggest that lipoid proteinosis in the Pakistani population may have a distinct genetic basis, with specific gene changes or variants.
The ECM1 gene, which is associated with lipoid proteinosis, encodes a protein that plays a role in the formation and organization of the extracellular matrix (ECM) – a network of proteins and other molecules that provide structural support to cells. Changes in this gene can disrupt the normal functioning of the ECM and lead to the accumulation of hyalin in tissues.
Individuals with lipoid proteinosis may present with a range of symptoms, including hoarse voice, thickened and scarred skin, and nodules on the scalp, face, and other parts of the body. The condition can also affect mucous membranes, leading to hoarseness and difficulty swallowing.
| Key features of lipoid proteinosis: |
|---|
| Thickened and scarred skin |
| Hoarse voice |
| Nodules on the scalp, face, and other parts of the body |
| Hoarseness and difficulty swallowing |
Due to the rarity of lipoid proteinosis, comprehensive clinical resources may be limited. However, medical professionals can consult with experts in genetic and rare diseases to discuss individual cases and obtain further guidance on diagnosis, management, and treatment options.
Overall, lipoid proteinosis is a complex genetic disorder that can cause significant physical and functional impairments. Further research and molecular studies are needed to better understand the underlying genetic changes, associated conditions, and potential therapeutic approaches for this condition.
Other Names for This Gene
The ECM1 gene is also known by the following names:
- Lipoid proteinosis
- Health-1 protein
- Lipoid proteinosis of Urbach and Wiethe
- Hyalinosis cutis et mucosae
Molecular information on the ECM1 gene can be found in the following resources:
- Additional genetic and family information can be found on OMIM (Online Mendelian Inheritance in Man)
- Scientific articles related to ECM1 gene can be found on PubMed
- Testing information and results can be found at the following databases: Pakistani Genes & Illnesses, GeneTests, and Genetic Testing Registry (GTR)
Changes in the ECM1 gene are typically associated with the conditions listed above. Proteinosis is a central feature of these conditions, making the ECM1 gene essential to the production of certain proteins in cells.
Additional Information Resources
- Genetic Testing: Patients with suspected genetic conditions related to the ECM1 gene can undergo genetic testing to confirm their diagnosis. Testing can be carried out in specialized laboratories that have experience with these types of conditions.
- Databases: Several databases are available that provide comprehensive information on genetic conditions, such as OMIM (Online Mendelian Inheritance in Man). These databases can be accessed to learn more about the characteristics, inheritance patterns, and possible treatments for these conditions.
- Family Support Groups: Joining a family support group can provide valuable support, guidance, and resources for individuals and families affected by genetic conditions related to the ECM1 gene. These groups offer a sense of community, and members can share their experiences and knowledge.
- Health Care Professionals: Consulting with healthcare professionals who specialize in genetic conditions can provide additional information and guidance. They can evaluate the individual’s symptoms, perform the necessary tests, and provide appropriate treatment options.
- Scientific Articles and Publications: The scientific literature contains a wealth of information on the ECM1 gene and its related conditions. PubMed is a widely used database that provides access to a vast collection of articles on genetics and related topics.
- Genes and Proteins Registry: The Genes and Proteins Registry is a centralized database that catalogs various genes and their associated proteins. It provides information on the characteristics and functions of these genes, as well as the diseases and conditions they may be involved in.
- Variant Databases: Variant databases compile information on specific genetic variants found in individuals. These databases can be valuable resources for researchers and clinicians seeking to understand the impact of specific gene variations on health and disease.
Tests Listed in the Genetic Testing Registry
Genetic testing is a valuable tool for diagnosing and understanding various genetic conditions. The Genetic Testing Registry (GTR) is a central resource for information on genetic tests, including those related to the ECM1 gene.
The GTR provides a catalog of genetic tests for various conditions, including those caused by changes in the ECM1 gene. These tests can help clinicians and researchers identify specific variants in the gene that may be associated with certain genetic diseases.
Tests listed in the GTR typically involve analyzing DNA or RNA samples from patients or their family members. By examining these samples, scientists can look for changes or variants in the ECM1 gene, which can provide important information about the underlying genetic cause of a condition.
In addition to genetic testing, the GTR also provides information on other resources that may be helpful for understanding ECM1-related conditions. These resources include scientific articles, databases, and references to other genes and proteins that may be related to the ECM1 gene.
The GTR is a valuable tool for genetic testing and research. It provides access to a wide range of information on genetic tests, making it easier for clinicians and researchers to find relevant tests for specific conditions. By using the GTR, healthcare professionals can access up-to-date information on the latest genetic tests and their results.
For conditions related to the ECM1 gene, the GTR can provide information on lipoid proteinosis, a rare genetic disorder characterized by the buildup of proteins in various tissues and organs. The GTR can help clinicians and researchers identify specific tests that can be used to diagnose lipoid proteinosis and provide information on the prognosis and management of the condition.
In conclusion, the GTR is a valuable resource for clinicians and researchers seeking information on genetic tests related to the ECM1 gene. It provides access to a wide range of tests, databases, and scientific articles, making it easier to diagnose and understand genetic conditions. By using the GTR, healthcare professionals can access the latest information on genetic tests and their results, ultimately improving patient care and outcomes.
Scientific Articles on PubMed
Scientific articles related to the ECM1 gene can be found on PubMed. PubMed is a central repository of scientific articles on various diseases and conditions. It provides a wealth of information on the molecular changes, genetic variants, and related proteins associated with these diseases.
There are several databases and resources listed on PubMed that contain information about the ECM1 gene. One such database is OMIM, which provides comprehensive information on genetic conditions and genes. OMIM includes information on the ECM1 gene, including its associated diseases and variant results.
ClinVar is another important database listed on PubMed. ClinVar is a clinical testing registry where labs can submit genetic variant and test information. ClinVar testing and variant results related to the ECM1 gene can be found in this database.
Proteinosis is one of the diseases associated with the ECM1 gene. Lipoid proteinosis, a rare genetic disorder, is characterized by changes in the ECM1 gene. Researchers often study the ECM1 gene and its related proteins to understand the molecular basis of lipoid proteinosis.
Additional scientific articles on PubMed discuss other genes and conditions that are related to the ECM1 gene. Genetic conditions within the ECM1 gene family are often investigated, and the articles on PubMed provide valuable insights into these genetic conditions.
For researchers and healthcare professionals, PubMed serves as a valuable resource to access scientific articles on the ECM1 gene, related diseases, and associated conditions. The resources and references provided on PubMed help to enhance our understanding of the ECM1 gene and its role in various health conditions.
References:
- PubMed: https://pubmed.ncbi.nlm.nih.gov/
- OMIM: https://omim.org/
- ClinVar: https://www.ncbi.nlm.nih.gov/clinvar/
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information on genes and genetic conditions. It serves as a valuable resource for researchers, healthcare professionals, and individuals seeking information on genetic disorders.
The catalog contains detailed information about various genes and the diseases associated with them. It includes information about the molecular basis of these conditions, such as gene mutations or changes that lead to the development of the disease.
OMIM provides a central repository for information on genes and genetic conditions. It lists the names of genes and diseases, along with references to scientific articles, databases, and other resources where additional information can be found. The catalog also includes information on genetic testing and the availability of tests for specific conditions.
One example of a gene listed in the OMIM catalog is ECM1. Variants in the ECM1 gene have been associated with lipoid proteinosis, a rare genetic disorder characterized by hoarseness of voice, skin and mucosal lesions, and other features.
OMIM provides information on the clinical characteristics, inheritance patterns, and molecular basis of lipoid proteinosis associated with ECM1 gene variants. The database also includes references to scientific articles, genetic registries, and other resources related to lipoid proteinosis.
OMIM can be accessed online and is regularly updated with new information. It serves as a valuable tool for researchers, healthcare professionals, and individuals seeking information on genes and genetic conditions.
| Gene | Disease |
|---|---|
| ECM1 | Lipoid Proteinosis |
| … | … |
In summary, the catalog of genes and diseases from OMIM provides a comprehensive and up-to-date resource for information on genetic conditions. It includes detailed information on genes, associated diseases, molecular changes, and available testing options.
Gene and Variant Databases
Gene and variant databases are valuable resources for researchers and clinicians working with ECM1 gene and related proteins. These databases provide a centralized collection of articles, resources, and references related to genetic changes in the ECM1 gene and its role in various diseases.
Scientific databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed provide extensive information on the molecular characteristics of the ECM1 gene. They catalog genetic changes, protein structures, and other relevant information for researchers to study and understand the impact of these changes on health.
Variant databases play a crucial role in genetic testing and making informed decisions. These databases list known variants of the ECM1 gene, providing clinicians and researchers with a comprehensive registry of genetic changes associated with lipoid proteinosis and other conditions.
The ClinVar database, for example, is a central resource for genetic variant information. It collects curated and submitted data on genetic variants and their clinical interpretations. It serves as a valuable resource for researchers, clinicians, and patients searching for information on variants of the ECM1 gene.
Furthermore, databases such as the Gene and Variant Database of Pakistan (GENVAP) focus on specific populations, providing information on gene variants and their prevalence within the Pakistani population. GENVAP helps in understanding the genetic diversity within different populations and aids in genetic testing and counseling.
These databases also provide access to scientific articles, websites, and other resources that focus on the ECM1 gene. Researchers and clinicians can access published articles, reviews, and case studies to stay updated with the latest scientific advancements and clinical findings.
In summary, gene and variant databases are essential tools for researchers and clinicians studying the ECM1 gene. These resources provide access to a wealth of information regarding genetic changes, protein structures, and related diseases. The information available in these databases is crucial for understanding the genetic basis of diseases, improving diagnostic testing, and developing targeted treatments.
References
When researching the ECM1 gene, the following resources proved to be invaluable:
- OMIM database: a comprehensive resource for information on genetic conditions and genes. It provided detailed information on the ECM1 gene, its functions, and associated diseases.
- PubMed: a database of scientific articles. Many articles were found on the subject of the ECM1 gene, its variants, and its relationship to various diseases and conditions.
- GeneTests: a resource for information on genetic testing, including information on specific genes like ECM1. It provided information on genetic tests available for ECM1 and related genes.
- Genetic testing registry: a registry that provides information on genetic tests and laboratories offering them. It listed the laboratories offering testing for the ECM1 gene.
- Protein Data Bank (PDB): a database containing 3D structural data of proteins. It provided information on the structure of the ECM1 protein and its molecular changes.
- Pakistani Journal of Medical Sciences: an article was found in this journal which described a novel mutation in the ECM1 gene in a Pakistani family with lipoid proteinosis. It provided additional information on the genetic changes observed in lipoid proteinosis.
These resources, along with other scientific articles and databases, were instrumental in gathering information on the ECM1 gene and its role in various diseases and conditions.