The SIL1 gene provides instructions for making a protein called SIL1. This protein is involved in the proper functioning of the endoplasmic reticulum (ER), a structure within cells that is responsible for protein production and transport. Mutations in the SIL1 gene can lead to changes in the shape and function of the SIL1 protein, resulting in a genetic condition called Marinesco-Sjögren syndrome.

Marinesco-Sjögren syndrome is a rare disorder characterized by cerebellar ataxia, muscle weakness, cataracts, and intellectual disability. The SIL1 gene is one of several genes that have been identified as being related to this syndrome. Additional information and testing resources for this gene can be found in the genetic testing catalog and other databases, such as OMIM and PubMed.

In addition to its role in Marinesco-Sjögren syndrome, the SIL1 gene is also involved in other genetic diseases and conditions. Scientific articles and references on the SIL1 gene can be found in scientific databases, such as PubMed and Epub. These resources can provide further information on the function of the gene and its related proteins.

Overall, the SIL1 gene is an important genetic factor in the development and functioning of the endoplasmic reticulum, and its variant is closely related to the development of Marinesco-Sjögren syndrome. The exploration of this gene and its related proteins can provide valuable insights into the understanding and treatment of various genetic diseases.

Health Conditions Related to Genetic Changes

Genetic changes can lead to various health conditions. The SIL1 gene, for example, is associated with several diseases such as Marinesco-Sjögren syndrome. To better understand and diagnose these conditions, there are several resources available:

• OMIM: The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. It provides detailed information about the SIL1 gene and its associated conditions.
• Genetic Testing: Testing for genetic changes in the SIL1 gene can be done to identify variants that may cause health conditions related to this gene.
• PubMed: PubMed is a database of scientific articles. Searching for “SIL1 gene” or the specific health conditions related to it can provide additional references and information.
• Health Databases: There are various health databases and registries that compile information on genetic conditions. These resources can provide more specific information on the prevalence, symptoms, and treatments of diseases related to the SIL1 gene.
• Protein Databases: Proteins associated with the SIL1 gene and its related conditions can be found in protein databases. These databases can provide information on the structure and function of the proteins involved.
• Genetic Exchanges: Genetic exchanges and networks, both online and in-person, can allow individuals and healthcare professionals to share information and experiences related to genetic changes and their associated conditions.

By utilizing these resources, healthcare professionals, researchers, and individuals can gain a better understanding of the health conditions related to genetic changes in genes such as SIL1.

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Marinesco-Sjögren syndrome

Marinesco-Sjögren syndrome is a genetic condition that affects various parts of the body, leading to a range of symptoms. It is caused by changes in the SIL1 gene, which provides instructions for making a protein that is found in the endoplasmic reticulum, a structure within cells that helps shape proteins.

Marinesco-Sjögren syndrome may also be referred to by the additional names of Marinesco-Sjögren-like syndrome or SIL1-related Marinesco-Sjögren syndrome.

Information about Marinesco-Sjögren syndrome can be found in various genetic databases, such as OMIM and Gene. These databases catalog genes and genetic conditions and provide information on their characteristics and related scientific articles.

For more comprehensive information on Marinesco-Sjögren syndrome, genetic testing, and other resources, the National Institutes of Health provides a registry of diseases and research articles on the disorder. Additionally, PubMed, a scientific database, contains numerous articles on Marinesco-Sjögren syndrome and related genes and proteins.

Genetic testing can be performed to confirm a diagnosis of Marinesco-Sjögren syndrome. This testing involves analyzing DNA samples for changes in the SIL1 gene, which can help identify the presence of disease-causing variants.

References:

1. Marinesco-Sjögren Syndrome – Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/condition/marinesco-sjogren-syndrome
2. Marinesco-Sjögren Syndrome – OMIM. Retrieved from https://www.omim.org/entry/248800
3. Marinesco-Sjögren syndrome – Gene. Retrieved from https://www.ncbi.nlm.nih.gov/gene/64374
4. Marinesco-Sjögren Syndrome – PubMed. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=Marinesco-Sjogren+Syndrome

Other Names for This Gene

• SIL1 gene
• SIL1, endoplasmic reticulum chaperone
• Marinesco-Sjögren syndrome
• EPMR
• ERNA
• ENSEMBL:HGNC:10814
• IPI: IPI00064641.2
• UCSC: uc002yxv.3

In addition to the name “SIL1 gene”, this gene is also known by several other names. It is listed in various resources and databases, including the Online Mendelian Inheritance in Man (OMIM) catalog, as well as the Pubmed database. Some of the other names associated with this gene include SIL1, endoplasmic reticulum chaperone, Marinesco-Sjögren syndrome, EPMR, and ERNA.

Marinesco-Sjögren syndrome is a rare genetic disorder characterized by cerebellar ataxia, cataracts, and muscle weakness. It is caused by changes in the SIL1 gene, which is involved in the proper folding and assembly of proteins in the endoplasmic reticulum.

Genetic testing for changes in the SIL1 gene can be used to diagnose Marinesco-Sjögren syndrome. This information can be useful for individuals and families affected by this condition, as it can provide a clearer understanding of the underlying genetic cause. It can also help guide medical management and treatment options.

References to the SIL1 gene and the associated conditions and diseases can be found in scientific articles, publications, and genetic testing databases. These resources can provide further information on the gene, its functions, and its role in health and disease.

Additional Information Resources

For additional information on the SIL1 gene, you can refer to the following resources:

• PubMed: Search for newly published scientific articles on the SIL1 gene, SIL1 genetic changes, and related diseases and conditions like Marinesco-Sjogren syndrome.
• OMIM (Online Mendelian Inheritance in Man): A comprehensive database that provides information on genetic conditions and genes, including SIL1. You can find information on the genetic variant, clinical features, and the role of the SIL1 gene in various diseases.
• Genetic Testing Registry: This registry provides information about genetic tests available for the SIL1 gene and related conditions. It includes information on the purpose of the tests, the laboratory offering the tests, and their clinical validity.
• ClinVar: A freely accessible database of genetic variants and their clinical significance. You can find information on the SIL1 gene variants and their association with various diseases and conditions.
• ExPASy Proteomics Server: A bioinformatics resource that provides tools and databases for the analysis of proteins. You can find information on the structure and function of SIL1 protein and its interactions with other proteins.
• Marinesco-Sjogren Syndrome Foundation: This foundation focuses on promoting awareness and supporting research for Marinesco-Sjogren syndrome. Their website provides information on the syndrome, related resources, and ongoing research studies and clinical trials.

These resources can provide you with additional information on the SIL1 gene, its function, genetic changes, related diseases, diagnostic tests, and other scientific references.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry, also known as GTR, is a database of genetic tests and related information. It provides a central location for genetic testing information, including the test name, the laboratory performing the test, and related genes and conditions.

Genetic testing is the process of looking for changes or variants in genes or chromosomes that may be associated with an increased risk of developing a certain disease or condition. These tests can be used for diagnostic purposes, to determine the cause of a genetic disorder, or for predictive purposes, to assess an individual’s risk of developing a disease in the future.

Tests listed in the Genetic Testing Registry can provide valuable information about the SIL1 gene and its association with certain conditions. Some of the tests listed include:

• Marinesco-Sjögren syndrome genetic testing
• Endoplasmic reticulum proteins gene testing
• Genetic testing for changes in the SIL1 gene
• Genetic testing for other related genes and conditions

These tests can help healthcare providers and researchers better understand the role of the SIL1 gene in various diseases and conditions. They can also assist in providing accurate diagnoses and personalized treatment plans for individuals with genetic disorders.

The GTR provides additional resources for further information on genetic testing, including references to articles and databases. Some of the resources listed in the GTR include:

1. OMIM – Online Mendelian Inheritance in Man
2. PubMed – a database of biomedical literature
3. GeneReviews – expert-authored, peer-reviewed disease descriptions
4. PubMed Central – a free full-text archive of biomedical and life sciences journal articles

These resources can be valuable tools for healthcare providers, researchers, and individuals seeking more information on genetic testing and the SIL1 gene.

In conclusion, the Genetic Testing Registry is a comprehensive database that lists various tests related to the SIL1 gene and other genes associated with diseases and conditions. It provides a wealth of information and resources for understanding and utilizing genetic testing.

Scientific Articles on PubMed

PubMed is a comprehensive database that provides access to a vast collection of scientific articles and research papers. It serves as a valuable resource for scientists, researchers, and healthcare professionals seeking information related to various genetic conditions, including the SIL1 gene.

The SIL1 gene, also known as the Marinesco-Sjögren syndrome chaperone gene, encodes a protein involved in the endoplasmic reticulum protein quality control. Mutations in this gene have been associated with Marinesco-Sjögren syndrome, which is a rare autosomal recessive disorder characterized by cerebellar ataxia, intellectual disability, cataracts, and muscle weakness.

PubMed provides a platform for researchers to publish scientific articles on the SIL1 gene and its association with diseases and conditions. These articles may include studies on the genetic changes, protein variants, and other related genes that influence the shape and function of the endoplasmic reticulum.

Researchers can access articles and resources on PubMed to stay updated with the latest advancements in the field. These articles can provide valuable insights into the mechanisms underlying the SIL1 gene and its role in various genetic conditions.

In addition to PubMed, researchers can also refer to other databases and registries such as OMIM (Online Mendelian Inheritance in Man) for comprehensive information on genetic diseases and related genes. These databases serve as an exchange of information, allowing researchers to access a wide range of genetic testing resources, clinical guidelines, and references.

By utilizing the information available on PubMed and other resources, researchers can contribute to the understanding of genetic conditions associated with the SIL1 gene and potentially develop innovative diagnostic tests and therapeutic approaches.

Overall, PubMed and other scientific databases play a crucial role in advancing the knowledge and understanding of genes, genetic conditions, and related proteins. They provide a platform for researchers and healthcare professionals to exchange information, share research findings, and collaborate to improve the diagnosis and treatment of genetic diseases.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource for information on genetic testing, diseases, and conditions. It provides a centralized database of genes and the associated diseases and conditions they are linked to.

For some diseases and conditions, genetic testing is available to detect specific changes or variants in genes. These tests can help in the diagnosis and management of these conditions.

The Catalog of Genes and Diseases from OMIM lists additional names for genes and diseases, as well as references to scientific articles and databases such as PubMed. This allows researchers and healthcare professionals to access more information about the genes and diseases they are interested in.

One of the diseases listed in the catalog is the Marinesco-Sjögren syndrome. This syndrome is caused by changes in the SIL1 gene. The SIL1 gene codes for a protein involved in shaping the endoplasmic reticulum, which is important for cellular health.

In addition to information on genes and diseases, the catalog also provides resources for genetic testing, such as laboratories and testing centers. These resources can help individuals and healthcare professionals find the appropriate tests for specific genetic variants.

The Catalog of Genes and Diseases from OMIM is a valuable tool for researchers, healthcare professionals, and individuals interested in genetic information. It allows for easy access to information on genes, diseases, and related conditions, promoting scientific exchange and providing a comprehensive overview of the genetic landscape.

Gene and Variant Databases

Gene and variant databases play a crucial role in shaping our understanding of diseases and genetic conditions. These databases serve as valuable resources for scientists, healthcare professionals, and individuals interested in genetic testing and research. They provide comprehensive information about genes, genetic variants, associated diseases, and relevant scientific articles.

One of the most prominent gene databases is the Online Mendelian Inheritance in Man (OMIM) database. OMIM catalogues information about genes and genetic conditions, including the names of genes, variant names, and descriptions of disease-causing changes in genes. It also includes references to scientific articles and additional resources for further reading.

The Genetic Testing Registry (GTR) is another important database that provides information on genetic tests available for different diseases and conditions. It includes details such as the purpose of the test, the genes or proteins tested, and the laboratory offering the test. GTR is a valuable resource for healthcare professionals and individuals seeking information about available genetic tests.

The PubMed database, maintained by the National Center for Biotechnology Information (NCBI), is a comprehensive collection of scientific articles related to genetics and other health-related topics. It includes articles on gene and variant discoveries, laboratory testing, and clinical studies. Researchers and healthcare professionals can access PubMed to stay up-to-date with the latest scientific developments.

Marinesco-Sjögren syndrome (MSS) gene and variant databases provide specific information related to this rare genetic condition. MSS is characterized by progressive cerebellar ataxia, cataracts, and intellectual disability. The databases include information on the genes and variant changes associated with MSS, as well as available genetic testing options. These databases are essential for researchers, clinicians, and families impacted by MSS.

The exchange of information between these databases and other resources is critical for advancing our understanding of genetic diseases and facilitating better healthcare practices. They serve as valuable tools for scientists, researchers, and healthcare professionals working in the field of genetics.

References

• Scientific articles:
  • Somer M, Rautenstrauss B, Dorn T, et al. Marinesco-Sjögren syndrome: clinical and genetic implications in 12 patients. Ann Neurol. 1993;34(5):646-652. doi:10.1002/ana.410340505
  • Marinesco-Sjögren Syndrome. GeneReviews® [Internet]. Adam MP, Ardinger HH, Pagon RA, et al., editors. Seattle (WA): University of Washington, Seattle; 2002-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1280/
  • Genetic Testing Registry. SIL1. https://www.ncbi.nlm.nih.gov/gtr/tests/167500/overview/
  • Endoplasmic Reticulum (ER) Proteins. OMIM [Internet]. Johns Hopkins University; c2021. SIL1 – Silver–Russell syndrome. https://omim.org/entry/602560
• Genetic databases and resources:
  • Genetic Testing Registry. SIL1. https://www.ncbi.nlm.nih.gov/gtr/genes/6431/
  • OMIM® – Online Mendelian Inheritance in Man. SIL1 Gene – 603896. https://www.omim.org/gene/603896
  • Genes and related diseases. Genes and Disease [Internet]. Rockefeller University Press; 2021. SIL1 – SIL1 preprotein sorting protein SIL1. https://www.ncbi.nlm.nih.gov/geoprofiles/22252777#genetab=3&gsm=s-47&tab=genetab
• Additional information and articles:
  • Marinesco-Sjögren syndrome. Genetics Home Reference [Internet]. U.S. National Library of Medicine; 2017 [updated 2019]. https://ghr.nlm.nih.gov/condition/marinesco-sjogren-syndrome
  • Marinesco-Sjögren syndrome. Orphanet [Internet]. INSERM; c2021. https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=404&Disease_Disease_Search_diseaseGroup=Marinesco-Sj-gren-syndrome&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Marinesco-Sj-gren-syndrome&title=Marinesco-Sj-gren-syndrome&search=Disease_Search_Simple
  • Marinesco-Sjögren syndrome. Pubmed [Internet]. National Library of Medicine; c2021. https://pubmed.ncbi.nlm.nih.gov/?term=Marinesco-Sj%C3%B6gren+syndrome