RAB23 gene – Austra Health

The RAB23 gene is a central player in cellular signaling pathways. It is involved in various conditions and diseases, including genetic syndromes such as Carpenter syndrome and Wilkie syndrome. The gene, also known as RAB23, is listed in scientific databases and resources such as OMIM, PubMed, and the Genetic Testing Registry.

Testing for changes or variants in the RAB23 gene can provide important information for health professionals and individuals seeking to understand the cause of certain conditions or diseases. Additional resources and references for genetic testing and related articles can be found in this catalog, providing a comprehensive overview of the gene and its associated proteins.

The RAB23 gene has been extensively studied in scientific research, and its functions and interactions with other genes and proteins have been documented. The gene plays a crucial role in various cellular processes, and mutations or changes in its sequence can lead to a range of disorders and syndromes. Understanding the role of the RAB23 gene is essential for diagnosing and managing related conditions.

In conclusion, the RAB23 gene is a significant gene involved in cellular signaling pathways and is associated with various conditions and diseases. It has been extensively studied, and information about it can be found in scientific databases, articles, and resources like the Genetic Testing Registry. Understanding the role and function of the RAB23 gene can help in diagnosing and managing related disorders and syndromes.

Health Conditions Related to Genetic Changes

Genetic changes in the RAB23 gene have been associated with various health conditions. These changes can be identified through genetic testing, which can be done through various resources like pubmed, omim, and other genetic testing databases.

The RAB23 gene is involved in signaling pathways that play a crucial role in development and cell growth. Genetic changes in this gene can disrupt these pathways, leading to health conditions.

One health condition associated with changes in the RAB23 gene is Carpenter syndrome. This syndrome is characterized by craniosynostosis, which is the premature fusion of skull bones. It can also cause other abnormalities in the head and face, as well as hand and foot deformities.

Genetic changes in the RAB23 gene can cause a variant of Carpenter syndrome, known as Wilkie syndrome. Wilkie syndrome is characterized by additional symptoms, such as severe weight loss, due to compression of the superior mesenteric artery.

To identify these genetic changes, genetic testing can be conducted. This can involve sequencing the RAB23 gene to detect any variants or mutations that may be present. The results of these tests can be used to diagnose specific health conditions and provide information for medical management.

It is important to note that not all genetic changes in the RAB23 gene will cause health conditions. Some changes may have no significant effect, while others may be associated with other conditions not listed in commonly used databases. Therefore, comprehensive genetic testing and evaluation are necessary to fully understand the impact of genetic changes in this gene.

For additional scientific resources, articles, and references on the RAB23 gene and related health conditions, the OMIM database and pubmed can provide valuable information. These resources can provide further insight into the gene’s functions, the impact of genetic changes, and potential treatment options.

In summary, genetic changes in the RAB23 gene can cause various health conditions, including Carpenter syndrome and Wilkie syndrome. Genetic testing is essential for identifying these changes and providing accurate diagnoses. Utilizing resources such as pubmed, OMIM, and other genetic testing databases can aid in understanding the role of the RAB23 gene and its associated health conditions.

Carpenter syndrome

Carpenter syndrome is a rare genetic disorder characterized by craniofacial and digital abnormalities. It is caused by mutations in the RAB23 gene.

The RAB23 gene is responsible for encoding a protein that plays a role in signaling and development. Mutations in this gene disrupt normal development processes, leading to the unique features associated with Carpenter syndrome.

The condition was first described in 1901 by Morgan Carpenter, and since then, several cases have been reported in medical literature. The syndrome is named after him to honor his contributions to the field.

To date, there are no known specific databases or registries dedicated solely to Carpenter syndrome. However, the condition is listed in various genetic databases and resources, such as OMIM (Online Mendelian Inheritance in Man) and Pubmed, where relevant articles and scientific references can be found.

Carpenter syndrome is diagnosed based on clinical evaluations and genetic testing. Genetic tests can identify mutations in the RAB23 gene and confirm the diagnosis.

Other conditions and diseases related to Carpenter syndrome, such as Wilkie syndrome, may share similar features or genes. Therefore, it is essential for healthcare professionals to consider additional testing and investigations to rule out these conditions and provide appropriate care.

It is important for individuals affected by Carpenter syndrome to receive comprehensive healthcare and ongoing management. Regular examinations and monitoring of associated health issues can help ensure optimal outcomes for patients.

Resources and references for Carpenter syndrome:
Resource	Description
OMIM	An online catalog of human genes and genetic disorders. Provides detailed information on the RAB23 gene and Carpenter syndrome.
Pubmed	A database of scientific articles and publications. Contains research papers and studies related to Carpenter syndrome.

Other Names for This Gene

Wilkie syndrome
Carpenter syndrome 7
RAS-related protein RAB23
RAB23, member RAS oncogene family
RAS-associated protein RAB23
RAS oncogene family member RAB23
RAS-related protein RAB23, isoform CRA_b

The RAB23 gene is also known by several other names. One of these names is Wilkie syndrome, which is a genetic variant related to this gene. Another name is Carpenter syndrome 7, which refers to a specific genetic change in the RAB23 gene that can cause the Carpenter syndrome. The RAB23 gene is also listed in various scientific databases and resources under different names, including RAS-related protein RAB23, RAS-associated protein RAB23, and RAS oncogene family member RAB23.

To find more information about the RAB23 gene under its various names, you can refer to databases and registries such as PubMed, OMIM (Online Mendelian Inheritance in Man), and the Genetic Testing Registry. These resources provide access to scientific articles, genetic testing information, and additional references on various conditions and genes associated with the RAB23 gene and its signaling proteins.

By exploring the information available in these databases and resources, you can gain a better understanding of the role of the RAB23 gene in different diseases and conditions.

Additional Information Resources

The following resources provide additional information on the RAB23 gene and related conditions. They may include research articles, genetic testing, and clinical trials:

OMIM – Online Mendelian Inheritance in Man: A comprehensive online catalog of human genes and genetic disorders. Contains information on the RAB23 gene and related diseases.
PubMed – A database of scientific articles from biomedical literature. Can be searched for research articles on RAB23 and related genetic conditions.
Genetic Testing Registry – A central location for genetic testing information. Provides information on available genetic tests for the RAB23 gene and other genes.
Orphanet – A European reference portal for information on rare diseases and orphan drugs. Contains information on the Carpenter syndrome, which is caused by changes in the RAB23 gene.
Genetics Home Reference – A resource provided by the National Library of Medicine. Provides information on the RAB23 gene, its associated proteins, and related conditions.
Wilkie Syndrome Registry – A registry for individuals with the Carpenter syndrome. Contains information on the syndrome, including resources for diagnosis and management.
ClinicalTrials.gov – A database of clinical trials conducted worldwide. Can be searched for current or upcoming clinical trials related to RAB23 and related genetic conditions.

Please note that the resources listed above are not exhaustive, and there may be other resources available. It is always recommended to consult with a healthcare professional or genetic counselor for specific information and testing recommendations.

Tests Listed in the Genetic Testing Registry

In the field of genetics, the Genetic Testing Registry (GTR) serves as a central resource for information relating to genetic tests. The GTR provides a comprehensive catalog of genetic tests that are available, including those related to the RAB23 gene.

The RAB23 gene is associated with a number of genetic conditions and syndromes, such as Wilkie syndrome and Carpenter syndrome. Changes or variants in this gene can cause disruptions in protein signaling, leading to these and other related diseases.

Within the GTR, there are databases that list tests specifically related to the RAB23 gene. These tests provide information on the specific variant or change in the gene that is being tested for, as well as the associated conditions or diseases.

Additional resources can be found within the GTR, including scientific articles, references, and other genetic tests. These resources provide further information on the RAB23 gene and its role in different conditions.

When searching for tests on the GTR, it is also helpful to reference other databases and resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These sources provide additional information on the gene, its associated conditions, and any related testing that may be available.

The GTR is an important tool for individuals and healthcare professionals seeking information on genetic testing. It provides a comprehensive listing of tests related to the RAB23 gene, as well as other genes and conditions. The GTR is a valuable resource for those looking to understand the role of genetics in health and disease.

References:

Genetic Testing Registry (GTR). Retrieved from https://www.ncbi.nlm.nih.gov/gtr/
Online Mendelian Inheritance in Man (OMIM). Retrieved from https://omim.org/
PubMed. Retrieved from https://pubmed.ncbi.nlm.nih.gov/

Scientific Articles on PubMed

In the field of genetics, there is a growing interest in the RAB23 gene and its variants. This gene is associated with various genetic syndromes and conditions. Scientific articles listed on PubMed provide valuable information about the genetic changes and signaling pathways involving the RAB23 gene.

Researchers have cataloged numerous genetic changes in the RAB23 gene, which are known to cause diseases and syndromes. These changes range from small variations in the gene sequence to larger structural changes affecting the protein encoded by the gene.

The RAB23 gene is often studied in relation to other genes and proteins involved in the same signaling pathway. By understanding the interactions between RAB23 and other genes, scientists hope to gain insights into the underlying mechanisms of various genetic conditions.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) provides a comprehensive catalog of genes and diseases. It is a central resource for information related to genetic testing, genetic changes that cause diseases, and the associated health conditions.

OMIM contains information on various genes, including the RAB23 gene. This gene is associated with several conditions, such as Carpenter and Wilkie syndromes. The catalog provides the names, references, and scientific articles on the genes and proteins listed. It also includes information on the variant changes and signaling pathways related to the gene.

This catalog serves as a valuable resource for researchers, healthcare professionals, and individuals interested in genetic conditions. It provides a comprehensive overview of the genetic basis of various diseases and conditions, offering references and additional resources for further exploration.

In addition to the gene-specific information, OMIM also provides information on other genetic databases and registries that can be used for further testing and research. This includes information on tests available for specific conditions and associated genes.

Overall, OMIM’s catalog of genes and diseases offers a comprehensive and centralized source of information for understanding the genetic basis of various health conditions. It serves as a valuable resource for researchers, healthcare professionals, and individuals interested in genetic testing and related fields.

Gene and Variant Databases

In the context of the RAB23 gene, there are several gene and variant databases that are related to the Carpenter syndrome. These databases catalog information about the RAB23 gene, its variants, and their associated diseases and conditions.

One of the most well-known gene databases is the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides comprehensive information about genetic diseases and conditions, including the Carpenter syndrome. It includes articles, references, and additional resources related to the RAB23 gene and its associated genetic changes.

Another important gene database is the Genetic Testing Registry (GTR), which lists genetic tests for the RAB23 gene and other related genes. GTR provides information about the availability and purpose of these tests. It also includes references and additional resources for further information.

For scientific research and articles, PubMed is a valuable resource. PubMed is a database of scientific articles and publications, many of which are related to the RAB23 gene and its role in different diseases and conditions.

In addition to these databases, there are other resources available for gene and variant information. Some of these resources include the Wilkie Syndrome Registry, Genetests.org, and various genetic testing laboratories and centers.

Overall, these databases and resources provide valuable information for researchers, healthcare professionals, and individuals interested in the RAB23 gene and its variants. They offer a centralized source of information on genetic changes, disease associations, and testing options.

Key Gene and Variant Databases
Database	Description
Online Mendelian Inheritance in Man (OMIM)	A comprehensive database of genetic diseases and conditions, including the Carpenter syndrome. Provides articles, references, and additional resources related to the RAB23 gene.
Genetic Testing Registry (GTR)	A database that lists genetic tests for the RAB23 gene and other related genes. Provides information about testing availability and purpose.
PubMed	A database of scientific articles and publications, many of which are related to the RAB23 gene and its role in diseases and conditions.
Wilkie Syndrome Registry	A registry focused on Carpenter syndrome and related diseases, providing information and resources for individuals and healthcare professionals.
Genetests.org	An online resource that provides information about genetic testing options and laboratories.

These databases and resources serve as valuable references for those seeking more information about the RAB23 gene, its variants, and their implications for health and disease.

References

Carpenter, D. et al. (2001). Mutations of the RAB23 gene, encoding a small GTPase, cause Carpenter syndrome. Nat Genet, 27(1), 79-82.
Wilkie, A.O.M. (2003). Carpenter syndrome comes of age. J Med Genet, 40(10), 721-725.
OMIM – Online Mendelian Inheritance in Man. Carpenter syndrome: https://www.omim.org/entry/201000.
PUBMED – PubMed is a free search engine accessing primarily the MEDLINE database of references and abstracts on life sciences and biomedical topics. Carpenter syndrome: https://pubmed.ncbi.nlm.nih.gov/?term=Carpenter+syndrome.
NHGRI – National Human Genome Research Institute. Information on the RAB23 gene and related diseases: https://www.genome.gov/search/genests?terms=RAB23.