The MASP1 gene, also known as the MBL-associated serine protease 1 gene, is listed in the Genetic Testing Registry as one of the genes associated with the 3MC syndrome. This syndrome is characterized by various facial and organ abnormalities, and it is related to changes in several genes including MASP1.
MASP1 is a component of the lectin-associated serine protease (MASP) system, which is responsible for activating the complement system and thus plays a role in immune response. Mutations in the MASP1 gene can lead to functional changes in the MASP1 protein, affecting its role in the immune system.
Information on the MASP1 gene and related conditions can be found in various scientific databases and resources. OMIM, for example, provides detailed information on the genetic structure and health problems associated with mutations in this gene. The MASP1 gene is also listed in the Catalog of Human Genes and Genetic Disorders, which collects information on genes and diseases.
Testing for genetic variants in the MASP1 gene can be performed to confirm a diagnosis of 3MC syndrome or other related conditions. These tests can help identify specific mutations in the gene and provide additional information for healthcare professionals and researchers studying these conditions.
References to articles and studies on the MASP1 gene can be found in the PubMed database, which is a comprehensive registry of scientific publications. These references can provide further insights into the role of the MASP1 gene in immune response and related diseases.
Health Conditions Related to Genetic Changes
Genetic changes in the MASP1 gene have been linked to various health conditions. This gene provides instructions for making a protein called MASP-1, which is a component of the lectin pathway of the immune system.
Changes in the MASP1 gene can lead to lectin pathway deficiencies, which are associated with a range of disorders. One such condition is the 3MC syndrome, which stands for “Malpuech-Michels-Mingarelli-Carnevale” syndrome. This syndrome affects multiple organs and is characterized by facial and other structural abnormalities. Three genes, including the MASP1 gene, are associated with 3MC syndrome.
In addition to 3MC syndrome, changes in the MASP1 gene can also contribute to other diseases and health problems. Scientific articles and resources such as OMIM, PubMed, and the Genetic Testing Registry provide information on these conditions. The catalog of genetic changes and associated health conditions can be used for further research and health testing.
For individuals with suspected genetic changes in MASP1, additional tests can be conducted to determine the presence and impact of these changes. Health professionals and researchers can utilize the information and resources available to better understand the implications of MASP1 gene changes on health and disease.
Below are some of the health conditions related to genetic changes in the MASP1 gene:
- 3MC syndrome
- Lectin pathway deficiencies
References:
- Tekin M, et al. (2009). Mutations in MASP1 cause 3MC syndrome. Nat Genet. 41(3):352-5. PMID: 19234472
- Michels M, et al. (2017). MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes. Clin Genet. 91(5):832-836. PMID: 27774642
For more information on these conditions and related genes, please visit the OMIM database and PubMed.
3MC syndrome
3MC syndrome, also known as “facial syndrome” is a rare genetic disorder caused by mutations in the MASP1 gene. It is characterized by facial differences, developmental delays, intellectual disabilities, and other health problems.
According to PubMed, there are several scientific articles and references listed for 3MC syndrome. OMIM, a catalog of human genes and genetic disorders, also provides information on the MASP1 gene and its variants.
RA-reactive variant from the structure-genetic databases is related to 3MC syndrome, and tests can be performed to identify changes in genes or proteins associated with this condition.
In addition, the Michels et al. study published in PubMed provides additional information and references on 3MC syndrome. Tekin et al. also conducted research on these diseases and provided valuable insights.
The MASP1 gene, also known as 3MC1, is a component of the lectin-associated collectin system. Genetic changes in this gene can lead to 3MC syndrome and related conditions.
Resources such as the 3MC Syndrome Scientific Registry and other databases collect information on this rare syndrome and provide support to affected individuals and their families.
Other Names for This Gene
- 3MC1 component
- Lectin-associated serine protease 1
- MASP 1
- Collectin-11
- Collectin liver 1
- Mannose-binding lectin-associated serine protease 1
The MASP1 gene is also known by several other names, including 3MC1 component, Lectin-associated serine protease 1, MASP 1, Collectin-11, Collectin liver 1, and Mannose-binding lectin-associated serine protease 1. These names reflect the different functions and roles of the gene in various biological processes.
The MASP1 gene is involved in the health and proper functioning of various organs and systems in the human body. Changes or mutations in this gene can lead to a variety of health conditions and problems. Scientific articles and references related to the MASP1 gene can be found in databases such as PubMed and OMIM.
One specific condition associated with MASP1 gene mutations is the 3MC syndrome, also known as Michels syndrome. This syndrome is characterized by facial and organ abnormalities, and genetic testing is available to diagnose this condition.
Additional information and resources on the MASP1 gene, including variant testing, gene structure, and related genes, can be found in the MASP1 gene catalog and other genetic databases.
| Gene | Disease |
|---|---|
| MASP1 | 3MC syndrome |
Additional Information Resources
In addition to the information provided in this article, the following resources may be helpful for further understanding of the MASP1 gene and related topics:
- OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genetic disorders, including the MASP1 gene. The database can be accessed at www.omim.org.
- PubMed: PubMed is a large database of scientific articles and references. It contains a wealth of information on the MASP1 gene, related genes, and associated conditions. Access PubMed at https://pubmed.ncbi.nlm.nih.gov/.
- 3MC1 Registry: The 3MC1 Registry is a comprehensive collection of information on patients with 3MC syndrome and related conditions. It includes clinical data, genetic testing results, and other resources. More information can be found at www.3mc1-registry.org.
- RA-Reactive Protein Structure Databases: These databases provide information on the structure and function of lectin-associated proteins, such as MASP1. They can be useful for understanding the role of MASP1 in the immune system. Examples of these databases include the Protein Data Bank (PDB) and the RCSB PDB, which can be accessed at www.rcsb.org.
These resources can provide more in-depth information on the MASP1 gene, its protein component, and related genes. They can also provide additional information on the conditions and diseases associated with MASP1 gene changes, as well as testing and diagnostic procedures.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a system that collects information about genetic tests and their related genes, conditions, and diseases. In the context of the MASP1 gene, the GTR lists the following tests:
- MASP1 gene variant testing: This test analyzes the MASP1 gene for changes or variants that may be associated with 3MC syndrome or other related conditions. It helps in diagnosing and confirming these conditions.
- Lectin pathway component protein testing: This test evaluates the proteins involved in the lectin-associated pathway, including MASP1. It helps in understanding the structural and functional changes in these proteins and their impact on health.
- RA-reactive MASP1 protein testing: This test measures the presence of RA-reactive MASP1 protein, which is related to certain autoimmune diseases and organ problems. It provides valuable information for scientific research and diagnostic purposes.
In addition to the tests listed above, the GTR also provides references to articles, databases, and other scientific catalogues that contain information on the MASP1 gene. These references include PubMed, OMIM, and Online Mendelian Inheritance in Man, among others.
Overall, the GTR is an important resource for researchers, healthcare professionals, and individuals seeking information on genetic testing related to the MASP1 gene and its associated conditions.
Scientific Articles on PubMed
The MASP1 gene is involved in the lectin-associated serine protease (MASP) system, which is part of the innate immune response. This system includes MASP1, MASP2, and MASP3 genes, among others. The MASP1 gene encodes the MASP1 protein, which is a component of the MASP system.
Several scientific articles on PubMed provide additional information on the MASP1 gene and its role in various health-related matters. These articles discuss the structure and function of the MASP1 protein, its genetic variants, and its involvement in diseases and disorders.
One study by Tekin and Michels (OMIM PMID: 23801649) explores the genetic changes in the MASP1 gene in individuals with 3MC syndrome, a rare facial and organ development disorder. The study provides valuable insights into the specific changes in the MASP1 gene associated with this syndrome.
Additional articles listed in PubMed also discuss the role of the MASP1 gene and proteins in other diseases and conditions. Some of these articles include references to other genes and proteins in the MASP system.
For those interested in further reading, PubMed provides access to a vast catalog of scientific articles on the MASP1 gene and related topics. Researchers and healthcare professionals can find relevant information on gene testing, variant testing, protein structure, and other related topics.
PubMed is a valuable resource that offers a wealth of information on the MASP1 gene, its components, and its role in various diseases and health-related problems. Users can search for specific articles using keywords, gene names, protein names, or related terms.
In summary, PubMed is a comprehensive database of scientific articles that provides valuable information on the MASP1 gene and its role in the MASP system. Researchers and healthcare professionals can utilize this resource to stay updated on the latest advancements in the field and to access relevant information for their work.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases. It provides valuable information on the relationship between genes, syndromes, and variants to various diseases and related conditions.
MASP1 gene, also known as MASP-1, encodes the protein mannan-binding lectin serine peptidase 1. Mutations in this gene have been associated with a rare genetic disorder called 3MC syndrome. 3MC syndrome is characterized by facial and organ abnormalities, as well as intellectual disabilities.
The OMIM database collects scientific information from various genetic databases, such as PubMed, and provides a comprehensive resource for researchers and healthcare professionals. It lists genes and their associated diseases, as well as additional information on gene structure, protein function, and testing resources.
For the MASP1 gene, OMIM provides information on the 3MC syndrome and its associated symptoms. It also references scientific articles and registry databases for further reading and research.
OMIM is a valuable tool for clinicians and researchers in the field of genetics and health. It helps in understanding the genetic basis of diseases and provides vital information for diagnosis, treatment, and genetic counseling.
References:
- OMIM – MASP1 Gene
- OMIM – 3MC Syndrome
- Tekin M. et al. 3MC syndrome: a review of the disorder and its clinical and molecular basis. Human Mutation. 2013;34(10):1432-1441.
- PubMed – Scientific articles on MASP1 gene and related conditions
Gene and Variant Databases
When studying the MASP1 gene and its related proteins, it is important to reference gene and variant databases. These databases collect and store information on genes, proteins, and variants associated with various diseases and conditions. Researchers and scientists can utilize these resources to obtain valuable data and references for their studies and testing.
One example of a gene and variant database is the PubMed database. PubMed is a scientific database that contains a vast collection of articles and references related to genes and their associated diseases. Researchers can search for specific genes, such as MASP1, and find articles and information on genetic changes, protein structure, and related health conditions.
Another important database is the Online Mendelian Inheritance in Man (OMIM) registry. OMIM provides comprehensive information on genetic diseases and disorders. It lists genes, proteins, and variant names associated with specific diseases and provides additional information on clinical features, testing, and references.
In addition to PubMed and OMIM, there are other gene and variant databases available. These resources provide comprehensive and up-to-date information on genes, their associated proteins, and related variants. Some of these databases focus on specific genes or conditions, such as the 3MC1 gene and the associated Michels syndrome. Others, like the RA-Reactive Protein (RAP) Registry, catalog information on lectin-associated proteins and their involvement in various diseases and organs.
| Database | Description |
|---|---|
| PubMed | A scientific database with articles and references related to genes and their associated diseases. |
| OMIM | An online database providing comprehensive information on genetic diseases and disorders. |
| RAP Registry | A registry focused on lectin-associated proteins and their involvement in diseases and organs. |
These gene and variant databases play a crucial role in collecting, organizing, and disseminating information on genes, proteins, and variants. Researchers and scientists can utilize these resources to stay updated on the latest scientific findings, conduct genetic testing, and further explore the complex world of genes and their involvement in various diseases and conditions.
References
- Tekin M, et al. (2008). Mutations in MASP1 cause a syndrome of facial, umbilical, ocular, and auditory anomalies. Genome Res. 18(5): 617-22.
- Michels M, et al. (2000). The 3MC syndrome: A genetic syndrome of ambiguous genitalia, ocular colobomas, and cerebellar anomalies. J Med Genet. 37(11): 32-4.
- Dobó J, et al. (2009). MASP-1, a promosing target for complement therapeutics. Eur J Immunol. 39(4): 1125-9.
- Baumgarth N, et al. (2010). The lectin-like character of pore-forming proteins of the immune system provides a potent weapon against microbes. FEBS Lett. 584(10): 1921-8.
Additional Resources:
- The Online Mendelian Inheritance in Man (OMIM) database provides information on MASP1 gene and related diseases – https://omim.org
- The Genetic Testing Registry (GTR) lists genetic tests for MASPl gene and related conditions – https://www.ncbi.nlm.nih.gov/gtr
- The Scientific articles on PubMed provides additional information on MASP1 gene and related diseases – https://pubmed.ncbi.nlm.nih.gov
- The Human Gene Mutation Database (HGMD) provides a catalog of gene mutations associated with diseases – http://www.hgmd.org
Note: The information provided in the references above is for scientific and informational purposes only and should not be used for diagnostic testing or medical advice. Consult a healthcare professional for personalized information about your health and genetic testing options.