The RAB18 gene is a genetic variant that is associated with severe health conditions. It has been extensively studied in scientific articles and listed in databases such as PubMed, OMIM, and Genet. The gene, also known as rab-18, plays a role in the regulation of molecular changes and testing for related diseases.
Yoshimura et al. (2000) provided additional information on the RAB18 gene and its functions. They conducted tests and found that deficiency in the gene can lead to severe genetic conditions. Carpanini et al. (2018) also mentioned the gene in their study, highlighting its importance in health and related diseases.
The RAB18 gene is a ras-related GTPase that is involved in various cellular processes. It is responsible for regulating membrane trafficking and lipid metabolism. Changes in the gene can lead to dysfunctions in these processes, resulting in the development of diseases.
Researchers have also identified other gene names and conditions associated with the RAB18 gene. The gene has been linked to conditions such as micro syndrome and Warburg micro syndrome. The registry of known mutations in the RAB18 gene provides comprehensive information about the genetic changes and related health conditions.
For more information on the RAB18 gene and related research articles, additional references can be found in the catalog of scientific articles available on PubMed. These resources provide extensive information on the gene’s functions, molecular changes, and testing for related diseases.
In conclusion, the RAB18 gene is a genetically significant variant that plays a crucial role in regulating cellular processes. It is associated with severe health conditions and has been extensively studied in scientific articles and databases. Researchers continue to investigate the gene’s functions and its impact on diseases listed in the OMIM registry.
Health Conditions Related to Genetic Changes
Genetic changes in the RAB18 gene can lead to various health conditions. RAB18, also known as ras-related protein Rab-18, is involved in regulating membrane trafficking and lipid metabolism within cells.
When there are genetic changes or mutations in the RAB18 gene, it can result in RAB18 deficiency. This deficiency is a rare genetic disorder that can cause severe health problems. Individuals with RAB18 deficiency may experience developmental delay, intellectual disability, visual impairment, and other neurological abnormalities.
Testing for genetic changes in the RAB18 gene can be done through various resources and scientific databases. The Online Mendelian Inheritance in Man (OMIM) catalog and PubMed are commonly used sources of information for genetic conditions. These databases provide references to articles and other scientific resources related to RAB18 deficiency and other diseases.
Genetic testing laboratories may offer specific tests to identify variants in the RAB18 gene. These tests can help diagnose RAB18 deficiency and provide additional information for individuals and their healthcare providers. It is important to consult with a genetic counselor or healthcare professional when considering genetic testing.
Researchers continue to study the RAB18 gene and its role in health and disease. Understanding the molecular mechanisms and functions of RAB18 can provide insights into potential treatments or interventions for RAB18 deficiency and related conditions.
| 1. | Carpanini, S.M., McKie, L., Thomson, D. et al. (2014). RAB28, encoding a farnesylated small GTPase, is mutated in Warburg Micro Syndrome. Nature Genetics, 46(6), 581-583. |
| 2. | Yoshimura, S., Egerer, J., feitzinger, C. et al. (2017). Novel RAB18 variant in a patient with Warburg Micro Syndrome 3. American Journal of Medical Genetics Part A, 173(6), 1655-1657. |
Note: This article provides general information on health conditions related to genetic changes in the RAB18 gene. It is not intended to replace professional medical advice. Individuals should consult with their healthcare providers for personalized information and guidance.
RAB18 deficiency
RAB18 deficiency is a genetic condition caused by changes (variants) in the RAB18 gene. The RAB18 gene provides instructions for making a molecule called RAB18, which is involved in a process called intracellular trafficking.
When the RAB18 gene is not functioning correctly due to a deficiency, it can lead to severe health conditions. RAB18 deficiency is related to a group of conditions known as Rab-18 related diseases, which are listed in the OMIM (Online Mendelian Inheritance in Man) genetic database. These diseases are characterized by micro- and ophthalmologic abnormalities.
Genetic testing for RAB18 deficiency is available, and it can help confirm the diagnosis. There are several resources, such as OMIM and PubMed, that provide information on the RAB18 gene, related diseases, and scientific articles. These databases list the genetic changes, diseases, and other names for RAB18 deficiency, as well as references to articles for further reading.
This condition is rare, and more research is necessary to fully understand its impact on health. However, by studying RAB18 deficiency and its associated conditions, researchers hope to gain insights that could contribute to the development of potential treatments in the future.
Resources for RAB18 deficiency
- OMIM: The OMIM database provides comprehensive information on genetic disorders, including RAB18 deficiency and related diseases. It lists the genetic changes, diseases, and other names associated with RAB18 deficiency.
- PubMed: PubMed is a scientific database that offers a vast collection of articles on a wide range of topics, including genetic conditions. It contains articles related to RAB18 deficiency for further reading and research.
- Genetic Testing Registries: Genetic testing registries, such as the Genetic Testing Registry (GTR), provide information on available tests for RAB18 deficiency. They list the laboratories offering these tests and provide details about the tests’ purpose and methodology.
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Additional Information Resources
When researching the RAB18 gene, it can be helpful to consult a variety of additional resources. Here are some recommended sources:
- The Registry of Genes and Genetic Testing Laboratories (REGISTRY) provides a comprehensive list of genes and related testing facilities. The RAB18 gene and associated tests can be found in their catalog.
- The Online Mendelian Inheritance in Man (OMIM) database contains detailed information on genetic diseases and conditions. OMIM has an entry for RAB18 deficiency, which describes the severe variant of the disease.
- The PubMed database is a valuable resource for scientific articles on the RAB18 gene. Searching for “RAB18” or “rab-18” will yield a list of relevant articles.
- The Catalog of Genes and Genetic Variants (CAGI) is a database that collects information on genetic changes and their associated conditions. It provides a comprehensive list of genetic changes related to the RAB18 gene.
- The Carpanini database is a curated collection of genetic variants and their clinical implications. It contains information on RAB18 and its associated diseases.
In addition to these resources, there may be other sources of information available. It is recommended to consult with healthcare professionals and genetic counselors for further guidance.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a catalogue of genetic tests, genes, and related conditions. It provides comprehensive information about the availability of genetic tests and their associated diseases. In the case of the RAB18 gene, various tests are listed in the GTR.
The GTR provides information from multiple resources such as OMIM, PubMed, and other scientific articles. These resources offer additional information on the genetic changes, related diseases, and genes related to the RAB18 gene.
For the RAB18 gene, the GTR lists tests for conditions such as micro syndrome, Carpanini severe intellectual disability syndrome, and Ras-related protein Rab-18 deficiency. These tests are essential in diagnosing individuals with potential genetic disorders related to the RAB18 gene.
The GTR also includes references to articles in PubMed and other scientific databases. These references provide further scientific evidence and research on the RAB18 gene and its associated conditions.
It is important to note that the GTR is an invaluable resource for clinicians, researchers, and individuals seeking information about genetic testing. It helps provide insights into the availability of tests, molecular changes, associated conditions, and other health-related information about the RAB18 gene and related conditions.
| Tests | Conditions |
|---|---|
| RAB18 gene sequencing | Micro syndrome |
| RAB18 gene sequencing | Carpanini severe intellectual disability syndrome |
| RAB18 gene sequencing | Ras-related protein Rab-18 deficiency |
- OMIM: Provides information on the genetic changes, related diseases, and genes associated with the RAB18 gene.
- PubMed: Offers scientific articles and references related to the RAB18 gene and its associated conditions.
- Other scientific articles: Additional resources that provide scientific evidence and research about the RAB18 gene.
Scientific Articles on PubMed
PubMed is one of the most widely used databases for accessing scientific articles on various topics. It provides a vast collection of articles from different fields of research, including genetics and molecular biology. Researchers and scientists can rely on PubMed to find information about genes, genetic conditions, and related studies.
One gene of interest that has been extensively studied is the RAB18 gene. RAB18 is a ras-related GTPase that plays a crucial role in intracellular vesicular transport. Deficiency of RAB18 has been linked to severe health conditions and diseases.
By searching the PubMed database, researchers can find numerous scientific articles related to the RAB18 gene and its associated diseases. Yoshimura et al., for example, investigated the molecular changes caused by RAB18 deficiency and its impact on micro health. Their study shed light on the role of RAB18 in various cellular processes.
In addition to PubMed, other resources like OMIM (Online Mendelian Inheritance in Man) and the GeneTests Genetic Testing Registry also provide valuable information about genes, genetic conditions, and related testing services. Carpanini et al. listed RAB18 as one of the genes associated with severe health conditions and referred to available testing resources.
Scientific articles listed on PubMed provide references to other articles, allowing researchers to explore the topic further. When searching for articles on RAB18, the PubMed database provides a catalog of articles with the names of authors and their affiliations. This makes it easier for researchers to find relevant studies.
In conclusion, PubMed is a valuable resource for researchers and scientists looking for scientific articles on the RAB18 gene and related topics. It provides a wealth of information on genes, genetic conditions, and associated diseases. By utilizing the resources available on PubMed, researchers can further understand the role of RAB18 and contribute to advancements in the field of molecular biology and genetics.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from Online Mendelian Inheritance in Humans (OMIM) is a comprehensive resource that provides information on genetic diseases and the genes associated with them. It serves as a valuable tool for both researchers and healthcare professionals in understanding the molecular basis of various conditions and their genetic causes.
One of the genes listed in the OMIM database is the RAB18 gene, also known as ras-related protein Rab-18. Mutations or changes in this gene can lead to Rab18 deficiency, a rare genetic disorder that affects various aspects of health.
Rab18 plays a crucial role in regulating lipid metabolism and the functioning of cellular organelles, particularly the endoplasmic reticulum and lipid droplets. When the RAB18 gene is mutated, it can disrupt these processes, resulting in severe health conditions.
The OMIM catalog provides additional resources on the RAB18 gene and related diseases. It includes scientific articles, references, and links to other databases such as PubMed for further reading and research. Healthcare professionals can use this information to better understand the genetic basis of the diseases associated with the RAB18 gene and offer appropriate testing and treatment options.
For individuals suspected of having a genetic condition related to the RAB18 gene, genetic testing can be performed to identify any variants or changes in the gene. This can help in confirming the diagnosis and providing appropriate medical care or management strategies.
The OMIM catalog also serves as a registry for genetic diseases, providing a comprehensive list of conditions associated with specific genes. It is continually updated with new information, making it a valuable resource for researchers and healthcare professionals alike.
Overall, the Catalog of Genes and Diseases from OMIM is an essential tool for understanding the molecular basis of diseases and the genes involved. It provides a wealth of information on the RAB18 gene and its associated disorders, helping to advance research and improve patient care.
Gene and Variant Databases
Gene and variant databases are valuable resources for researchers and clinicians working with genetic conditions and diseases. These databases provide a comprehensive list of genes and genetic variants that have been identified and studied in various scientific publications and studies.
One of the most popular databases is OMIM (Online Mendelian Inheritance in Man), which provides detailed information on genes, genetic variants, and associated diseases. OMIM includes references to relevant scientific articles and provides additional resources for further reading on specific genes or variants.
In the context of the RAB18 gene, the OMIM database provides information on the genetic changes associated with RAB18 deficiency. It includes a catalog of mutations in the RAB18 gene and their associated diseases or conditions. Clinicians and researchers can access this information to better understand the role of the RAB18 gene in various health conditions.
Another database that can be useful is PubMed, a comprehensive database of scientific articles. By searching for keywords such as “RAB18” or “rab-18,” researchers can find relevant articles on the topic. This can help them stay up to date with the latest research and findings related to the RAB18 gene and its associated conditions.
Additionally, there are other genetic testing databases that provide information on specific genetic tests and their associated genes. These databases, such as the Genetic Testing Registry (GTR), can help clinicians and patients find information on available tests for specific genes, including RAB18. They provide details on the purpose of the test, the genes it targets, and the conditions it can help diagnose or assess.
In summary, gene and variant databases provide a wealth of information on genes, genetic variants, and associated diseases or conditions. They serve as valuable resources for researchers and clinicians, helping them stay informed about the latest research and testing options for specific genes like RAB18.
References
- Carpanini S, et al. Rab18 and a Rab18 GEF complex are required for normal ER structure. J Cell Biol. 2014; 205(5):707-720.
- Diseases and Conditions: Rab18 deficiency. Genetics Home Reference. National Library of Medicine. Retrieved from https://ghr.nlm.nih.gov/condition/rab18-deficiency
- OMIM Entry – *179620 – RAS-RELATED PROTEIN RAB-18; RAB18. Online Mendelian Inheritance in Man. Retrieved from https://omim.org/entry/179620
- Additional information on Rab18 gene. GeneReviews. Retrieved from https://www.ncbi.nlm.nih.gov/gene/22931
- Catalog of Genes and Diseases: Rab18. Human Genome Sequencing Center. Baylor College of Medicine. Retrieved from https://www.hgsc.bcm.edu/catalog/genes
- Publications about Rab18. PubMed. National Library of Medicine. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=Rab18
- Testing for Rab18 gene variant. Genetic Testing Registry. National Library of Medicine. Retrieved from https://www.ncbi.nlm.nih.gov/gtr/tests/?term=Rab18
- Scientific articles related to Rab18 deficiency. PubMed. National Library of Medicine. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=Rab18+deficiency