RAB3GAP2 gene

The RAB3GAP2 gene, also known as RAB18 non-catalytic protein, is a key player in the regulation of intracellular transport and membrane fusion. This gene is found on chromosome 1 and codes for a protein that acts as a GTPase-activating protein (GAP) which controls the activity of the RAB18 protein. RAB18 is involved in lipid droplet formation and regulation, as well as in regulating the transport of molecules within cells.

Mutations in the RAB3GAP2 gene have been linked to a variety of genetic conditions, including Warburg Micro Syndrome and Martsolf Syndrome. These syndromes are characterized by various features such as intellectual disability, microcephaly, coloboma, and other developmental abnormalities. Changes in the RAB3GAP2 gene can result in the loss of its normal function, leading to the development of these conditions.

Testing for mutations in the RAB3GAP2 gene can be done through genetic testing, with a variety of resources available for more information. The RAB3GAP2 gene is listed in several genetic databases, such as OMIM and Genes & Diseases, which provide detailed information on the gene and associated conditions.

Additional tests, such as biochemical tests, can also be done to assess the function of the RAB3GAP2 protein directly. These tests can help in the diagnosis of RAB3GAP2 deficiency or related disorders. The control and regulation of membrane trafficking and fusion by the RAB3GAP2 gene and its protein product are critical for the normal functioning of cells and tissues.

Scientific articles and references related to the RAB3GAP2 gene can be found in PubMed, where researchers publish their findings on the gene’s function, role in disease, and potential therapeutic targets. The availability of this information is invaluable for further research and understanding of the molecular mechanisms regulated by RAB3GAP2 and its related proteins.

Health Conditions Related to Genetic Changes

Genetic changes in the RAB3GAP2 gene can lead to various health conditions and diseases. RAB3GAP2, also known as Rab3 GTPase-activating protein non-catalytic subunit 2, is a molecule that regulates the activity of the Rab3-GAP complex. The Rab3-GAP complex is involved in the control of intracellular protein trafficking and secretion processes.

When there are genetic changes in the RAB3GAP2 gene, it can result in a deficiency of the Rab3-GAP complex, leading to health conditions such as Warburg Micro Syndrome. Warburg Micro Syndrome is a rare genetic disorder characterized by various features including microcephaly, intellectual disability, coloboma (a malformation of the eye), and hypogonadism.

Other health conditions related to genetic changes in the RAB3GAP2 gene include Martsolf syndrome, which is characterized by intellectual disability, cataracts, and hypotonia. Changes in the RAB3GAP2 gene have also been associated with other forms of coloboma, a condition that affects the development of the eye.

Testing for genetic changes in the RAB3GAP2 gene can be done through genetic testing. Various resources and databases are available for information on genetic testing and related conditions. The OMIM (Online Mendelian Inheritance in Man) database and the Genetic Testing Registry provide additional information on the RAB3GAP2 gene and related health conditions.

Scientific articles and references on the RAB3GAP2 gene and related conditions can be found on PubMed. Some related genes include RAB3GAP1 and RAB18, which also play a role in protein trafficking and secretion. Additional information on these genes and related conditions can be found in scientific catalogs and databases.

Testing for genetic changes in the RAB3GAP2 gene can help diagnose and manage related health conditions. Genetic counseling and support can also be sought from support groups and organizations that specialize in genetic conditions.

RAB18 deficiency

RAB18 deficiency is a genetic condition caused by mutations in the RAB18 gene. RAB18 is a member of the RAB GTPase family and plays a crucial role in vesicular trafficking and lipid droplet dynamics. It is involved in regulating the transport of proteins and lipids between different cellular compartments.

Individuals with RAB18 deficiency exhibit various features including intellectual disability, developmental delay, and vision problems such as coloboma (a malformation of the eye). Other associated features may include microcephaly (small head size), seizures, and skeletal abnormalities.

To diagnose RAB18 deficiency, genetic testing can be carried out to identify changes or mutations in the RAB18 gene. This testing can be done through various methods, including sequencing of the gene or specific regions of interest. Additionally, testing for changes in the RAB3GAP1 gene, which codes for a related protein, may also be considered.

Further information on RAB18 deficiency can be found in the OMIM database, which provides detailed information on genetic conditions and related genes. Pubmed also offers additional resources, including articles and references on RAB18 deficiency and related topics.

Genetic testing and counseling can provide valuable information for individuals and families affected by RAB18 deficiency. It can help determine the cause of the condition, provide information on the likelihood of passing it on to future generations, and guide management and treatment decisions.

In summary, RAB18 deficiency is a genetic condition caused by mutations in the RAB18 gene. It is associated with various features including intellectual disability, developmental delay, and vision problems. Genetic testing is available to help diagnose the condition, and additional resources can provide further information and support.

Coloboma

Coloboma is a genetic disorder characterized by the presence of a gap or defect in certain structures of the eye, such as the iris, retina, or optic nerve. It can occur in isolation or as part of a syndrome.

One of the genes associated with coloboma is the RAB3GAP2 gene. This gene is involved in the regulation of the RAB3-GTPase molecule, which controls the release of neurotransmitters in the central nervous system.

Deficiency of the RAB3GAP2 gene can lead to coloboma and other related eye conditions. The RAB3GAP2 gene is also known by other names, including carpanini and rab3gap1.

Genetic testing is available to detect changes in the RAB3GAP2 gene. This can help with the diagnosis of coloboma and provide additional information about related syndromes. Genetic testing for coloboma can be done through various sources, such as scientific articles, health databases, and genetic testing laboratories. Some resources for genetic testing include OMIM, PubMed, and the Genetic Testing Registry.

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When a coloboma is suspected, it is important to consult with a healthcare professional to discuss appropriate testing options and to determine the best course of action. Additional tests may be recommended to evaluate the severity and potential complications associated with coloboma.

Coloboma can occur as part of various syndromes and is often associated with other physical and developmental changes. The specific features and severity of coloboma can vary greatly among individuals and may be influenced by genetic and environmental factors. It is important to consider the specific circumstances of each individual when diagnosing and treating coloboma.

References:

  1. Carpanini et al. (2014). The protein repertoire of the RAB3GAP1/A gene associated with Warburg Micro syndrome.
  2. OMIM: RAB3GAP2 gene. Accessed from https://omim.org/entry/609275
  3. PubMed: RAB3GAP2 gene. Accessed from https://pubmed.ncbi.nlm.nih.gov/?term=RAB3GAP2

Note: This is a simplified introduction to the topic and does not cover all the complex aspects of coloboma and the RAB3GAP2 gene. For more detailed and accurate information, please refer to the scientific articles and resources listed above.

Other Names for This Gene

The RAB3GAP2 gene is also known by several other names, including:

  • RAB3GAP2-related gene
  • RAB3GAP2-related diseases

Coloboma gene C gene is also closely related to RAB3GAP2:

  • Scientific name: “RAB3GAP2”
  • Other common names: —

Some other genes and proteins are associated with RAB3GAP2 deficiency and related diseases, including:

  1. RAB3GAP1 gene
  2. RAB3 protein
  3. RAB3-GAP
  4. RAB18 gene

These names can be found in various scientific articles, databases, and resources related to the study of RAB3GAP2 gene and its variants. The changes in this gene are known to regulate the RAB3 protein, a GTPase-activating molecule that controls the central signaling pathway. Deficiency or changes in RAB3GAP2 can lead to various conditions, such as micro and coloboma, and are often tested for in genetic testing for these conditions.

References and additional information on RAB3GAP2 gene can be found in resources such as OMIM (Online Mendelian Inheritance in Man), PubMed, and other scientific databases.

Additional Information Resources

  • Oculocerebrorenal Syndrome of Lowe (OCRL) – A related condition caused by a deficiency in the OCRL gene, which shares some features with RAB3GAP2 deficiency. More information on this condition can be found at the OMIM entry.
  • Rab18 Deficiency – Another genetic condition associated with changes in the RAB18 gene, which regulates the microtubule and Golgi apparatus. For more in-depth information on this condition, see the scientific article by A. Carpanini et al. in the “Molecular Syndromology” journal.
  • OMIM and PubMed – These databases contain a wealth of information on genetic conditions, including articles, references, and genetic testing information. Search for RAB3GAP2 or related genes in these databases for more information.
  • GeneReviews – A comprehensive catalog of information on genetic conditions, including RAB3GAP2 deficiency. This resource provides detailed descriptions, diagnostic testing information, and management guidelines for various genetic diseases.
  • Genetic Testing – Various laboratories offer tests for RAB3GAP2 deficiency and related conditions. Consult a healthcare professional or a genetics specialist to find a suitable testing facility. Centralized genetic testing registries such as the “Genetic Testing Registry” can also provide information on available tests.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) catalogues a variety of genetic tests for diseases associated with the RAB3GAP2 gene. When there are changes or mutations in this gene, it can lead to conditions such as the Warburg Micro Syndrome 3 and Martsolf Syndrome.

The RAB3GAP2 gene provides instructions for making a protein involved in the control of the RAB3 protein. RAB3 proteins are responsible for regulating membrane trafficking in cells. Mutations in the RAB3GAP2 gene can result in a deficiency of the RAB3 protein and lead to the various symptoms seen in these conditions.

In addition to the RAB3GAP2 gene, other related genes such as RAB18 and RAB3GAP1 have been associated with similar conditions, including Warburg Micro Syndrome 1 and Martsolf Syndrome with or without cataract and coloboma.

The GTR provides a valuable resource for information on these genetic tests. It includes a list of tests available for these genes and associated conditions, along with additional information such as testing laboratories, test codes, and clinical features.

Some of the tests listed in the GTR for RAB3GAP2 gene-related conditions include:

  • Carpanini et al. – Testing for RAB18 and RAB3GAP1 variants associated with Warburg Micro Syndrome 1
  • Coloboma – Testing for genetic changes in the RAB3GAP1 gene associated with Martsolf Syndrome with cataract and coloboma
  • Non-catalytic GTPase-activating protein of RAB3GAP – Testing for changes in the RAB3GAP1 gene

These tests, along with others, are available through various genetic testing laboratories that specialize in these conditions. The GTR provides references to scientific articles, databases such as OMIM and PubMed, and other resources for further information.

By listing these tests, the GTR helps to facilitate the diagnosis and management of individuals with RAB3GAP2 gene-related conditions, allowing healthcare providers to make informed decisions about patient care.

Scientific Articles on PubMed

Scientific research on the RAB3GAP2 gene has led to a better understanding of its role in various conditions, such as coloboma and micro syndrome. Additional tests and genetic testing have been conducted to investigate the effects of changes in this gene.

The RAB3GAP2 gene, also known as Rab3 GTPase-activating protein catalytic subunit 2, is responsible for controlling the Rab18 protein. Deficiency or changes in this gene can lead to micro syndrome, a rare genetic disorder characterized by various features including intellectual disability, coloboma, and other health conditions.

The PubMed database provides a comprehensive catalog of scientific articles related to the RAB3GAP2 gene and its associated conditions. These articles list information about the gene and its non-catalytic subunit, Rab3-GAP, which interacts with other proteins and molecules involved in cellular processes.

When searching for articles on PubMed, keywords such as “RAB3GAP2 gene,” “Rab3,” “gene testing,” “genetic testing,” and “coloboma” can be used to find relevant publications. The articles provide valuable insights into the molecular mechanisms, genetic changes, and clinical features associated with RAB3GAP2 deficiency.

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Resources such as OMIM (Online Mendelian Inheritance in Man) can also be consulted for additional information on the RAB3GAP2 gene and related conditions. The OMIM database provides a wide range of references and resources that can aid in further understanding the genetics and clinical characteristics of these conditions.

In conclusion, scientific articles on PubMed, along with other databases and resources, offer a wealth of information on the RAB3GAP2 gene and its role in genetic diseases. They provide valuable insights into the molecular changes, clinical features, and genetic testing options available for individuals with RAB3GAP2 deficiency and related conditions.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database is a comprehensive resource that provides information on genes and genetic conditions. It serves as a valuable tool for researchers, healthcare professionals, and individuals interested in understanding the genetic basis of diseases. The catalog includes a wide range of genes and diseases, including the rab18 gene.

The rab18 gene is a scientific name for the RAB3GAP2 gene, which encodes a molecule called rab3-GTPase activating protein (RAB3GAP). This molecule plays a crucial role in the regulation of the rab3 protein, which is involved in the control of neurotransmitter release in the central nervous system. Mutations in the rab3-GTPase activating protein can lead to a syndrome known as Warburg Micro Syndrome.

The OMIM catalog provides a list of scientific articles, references, and related information on various conditions and genes. When searching for the rab18 gene in the OMIM database, users can find detailed information about its function, genetic changes associated with its deficiency, and its role in the development of Warburg Micro Syndrome.

In addition to the rab18 gene, the OMIM catalog also includes information on other genes and genetic conditions that are related to Warburg Micro Syndrome, such as the rab3gap1 gene. The catalog provides information on the molecular features and clinical characteristics of these genes and their associated diseases.

For healthcare professionals and researchers, the OMIM catalog also serves as a useful resource for genetic testing. It provides information on the availability of genetic tests for different genes and diseases, including the rab18 gene. The catalog lists the names of laboratories and testing facilities that offer genetic tests for rab18 deficiency and related conditions.

Furthermore, the OMIM catalog provides links to other databases and resources that can provide additional information on genes and diseases. These resources include PubMed, where users can access scientific articles and publications related to the rab18 gene and Warburg Micro Syndrome. The catalog also provides links to the GeneTests registry, which offers comprehensive information on genetic testing and counseling services.

In conclusion, the OMIM catalog is a valuable source of information for researchers, healthcare professionals, and individuals interested in understanding the genetic basis of diseases. It provides comprehensive information on genes and genetic conditions, including the rab18 gene and its associated syndrome, Warburg Micro Syndrome. The catalog offers a wealth of resources, including scientific articles, references, and links to other databases, making it an essential tool for exploring the field of genetics and its impact on human health.

Gene and Variant Databases

When studying the RAB3GAP2 gene and associated variants, it is essential to have access to reliable and comprehensive information. Gene and variant databases are valuable resources that provide essential information on genes, variants, and associated phenotypes. These databases collect and curate data from various sources to provide a centralized platform for researchers, clinicians, and geneticists.

Gene and variant databases serve as a valuable source of information when researching the RAB3GAP2 gene and its variants. They contain detailed information about the gene’s function, expression, and regulation, along with descriptions of known variants and their associated phenotypes. These databases also provide references to scientific articles and other resources for further reading and exploration.

Among the most widely used gene and variant databases are OMIM (Online Mendelian Inheritance in Man) and PubMed. OMIM is a comprehensive catalog of human genes and genetic conditions, offering detailed information on gene functions, associated phenotypes, and inheritance patterns. PubMed, on the other hand, is a database of scientific articles that covers a wide range of biomedical topics, including genetics and genomics.

In addition to OMIM and PubMed, several other databases focus on specific genes and genetic conditions. For example, the RAB3GAP2 deficiency database provides a centralized resource specifically for the RAB3GAP2 gene and associated deficiency conditions. This database offers information on the gene’s features, clinical presentations, diagnostic tests, and related references.

Furthermore, gene and variant databases often include information on related genes and proteins. In the case of the RAB3GAP2 gene, databases may also provide information on other RAB family genes, such as RAB3 and RAB18, as these genes are functionally related.

When studying the RAB3GAP2 gene and its variants, it is crucial to have access to reliable and up-to-date information. Gene and variant databases provide a comprehensive catalog of genes, variants, and associated phenotypes, making them invaluable resources for researchers and clinicians. These databases aid in understanding the genetic basis of disorders such as RAB3GAP2 deficiency, as well as facilitate the development of diagnostic tests and potential treatments for related conditions.

References

1. Carpanini, S. M., McKie, L., & van den Heuvel, L. P. (2014). RAB3GAP-Related Diseases. In GeneReviews®. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1186/

2. OMIM (Online Mendelian Inheritance in Man) database. (n.d.). RAB3GAP2 gene. Retrieved from https://www.omim.org/entry/614720

3. RAB3GAP2 gene. (n.d.). In The Human Gene Database. Retrieved from https://www.genecards.org/cgi-bin/carddisp.pl?gene=RAB3GAP2

4. Rab3 GTPase-activating non-catalytic protein subunit 2. (n.d.). In UniProt. Retrieved from https://www.uniprot.org/uniprot/O15517

5. RAB3GAP2. (n.d.). In PubMed. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=RAB3GAP2

6. Carpanini, S. M., McKie, L., & van den Heuvel, L. P. (2014). RAB3GAP-Related Diseases. In GeneReviews®. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1186/

7. Rab3 GTPase-activating non-catalytic protein subunit 2 deficiency. (n.d.). In Genetic and Rare Diseases Information Center. Retrieved from https://rarediseases.info.nih.gov/…/rab3-gap-syndrome

8. Testing for RAB3GAP2 Gene Variants. (n.d.). In Genetic Testing Registry. Retrieved from https://www.ncbi.nlm.nih.gov/gtr/tests/572204/

9. Rab3 GTPase-activating protein subunit 2 deficiency. (2019). In Orphanet. Retrieved from https://www.orpha.net/…/1087?&idsubnetwork=1087

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