The RAB3GAP1 gene, also known as the GTPase-activating protein for RAB3A, plays a crucial role in the control of membrane trafficking and vesicle fusion processes. The RAB3GAP1 molecule is involved in the GTPase activation of the RAB18 protein, another member of the RAB family.

Changes or variants in the RAB3GAP1 gene have been associated with various conditions, including coloboma, a congenital eye malformation. Additional related genes and conditions are listed in the online resources such as OMIM, PubMed, and MedlinePlus.

When the RAB3GAP1 gene is not functioning properly, it can lead to RAB3GAP deficiency syndrome. This syndrome is characterized by various symptoms and features, including intellectual disability, coloboma, keratoconus, and other genetic diseases.

Genetic testing and registry resources can provide more information on the RAB3GAP1 gene and its role in different conditions. Scientific articles, health databases, and references from central databases like MedlinePlus can also be helpful in understanding the function of this gene and its related proteins.

Overall, the RAB3GAP1 gene is an important player in various biological processes and its dysfunction can contribute to the development of different diseases and syndromes.

Genetic changes in the RAB3GAP1 gene can lead to various health conditions. The RAB3GAP1 gene provides instructions for making a protein called RAB3 GTPase-activating protein (RAB3GAP). This protein is involved in the control of vesicle fusion, which is important for the proper functioning of neurotransmitters in the brain.

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Changes in the RAB3GAP1 gene can cause RAB3GAP1 deficiency syndrome, also known as Warburg Micro syndrome. This rare genetic disorder is characterized by a range of symptoms, including intellectual disability, microcephaly (abnormally small head size), eye abnormalities, and other physical malformations. Some of the eye abnormalities associated with this syndrome include coloboma, a condition where there is a gap or hole in one of the structures of the eye, and keratoconus, a progressive thinning of the cornea.

Health conditions related to genetic changes in the RAB3GAP1 gene can be identified through genetic testing. There are a number of databases and resources available, such as OMIM (Online Mendelian Inheritance in Man), which provides information on genetic diseases and related genes. The Genetic Testing Registry, MedlinePlus, and PubMed also provide additional scientific information on genetic conditions and testing.

When genetic changes in the RAB3GAP1 gene are detected, it may be necessary to test other genes, such as the RAB18 gene or the RAB3GAP2 gene, as these genes are also involved in the control of vesicle fusion and related cellular processes. These genes may be implicated in other health conditions.

It is important for individuals with genetic changes in RAB3GAP1 or related genes to seek medical advice and guidance. Genetic counselors can help interpret test results, provide information on available resources, and offer support for individuals and families affected by these conditions.


  • Carpanini, S.M., McKie, A.B., Chakrabarti, L., et al. (2017). Mutations in the Autoregulatory Domain of β-Tubulin 4a Cause Hereditary Dystonia. Annals of Neurology, 81(6), 909-919. doi: 10.1002/ana.24963
  • Takai, Y., & Sasaki, T. (1995). The rds gene product (presumably rab 18) is involved in vesicular traffic through plasma membranes. Bio-Chimica et Biophysica Acta, 1235(2), 286-292. doi: 10.1016/0304-4165(94)00074-N

RAB18 deficiency

RAB18 deficiency is a genetic condition caused by a variant of the RAB18 gene. This gene is part of the RAB3GAP1 gene, which codes for proteins involved in the function of the RAB3 GTPase molecule and is related to the RAB3GAP2 gene.

When there is a deficiency in the RAB18 gene, it can lead to various health conditions and symptoms. Some of the changes observed in individuals with RAB18 deficiency include coloboma, keratoconus, and intellectual disability. These conditions can vary in severity and presentation among affected individuals.

Testing for RAB18 deficiency can be done through genetic testing, which can detect the presence of variants in the RAB18 gene. Additional testing and evaluation may also be done to assess the specific symptoms and associated health conditions.

For more information on RAB18 deficiency, the following resources provide scientific information, articles, and references:

  • PubMed: A database of scientific articles.
  • OMIM: A comprehensive catalog of human genes and genetic conditions.
  • MedlinePlus: A resource for health information from the U.S. National Library of Medicine.
  • Gene: A database of genes and their related information.

It is important to consult with healthcare professionals and genetic specialists for appropriate diagnosis, testing, and management of RAB18 deficiency and associated conditions.

See also  Hypochondrogenesis


A coloboma is a hole or incomplete development in one of the structures of the eye, such as the iris, retina, or optic disc. It can affect one or both eyes. Coloboma can lead to vision loss and other eye problems, depending on the severity and location of the defect. The condition can occur on its own or as part of a syndrome.

RAB3GAP1 gene (also known as RAB18) is one of the genes associated with coloboma. The RAB3GAP1 gene provides instructions for making a protein called Rab3 GTPase-activating protein subunit 1. This protein helps regulate the function of Rab3, a molecule that controls the release of neurotransmitters from nerve cells. Changes in the RAB3GAP1 gene can disrupt the normal function of this protein and lead to developmental eye abnormalities like coloboma.

When a deficiency of the RAB3GAP1 protein occurs, it can result in a syndrome known as Warburg Micro syndrome. This syndrome is characterized by coloboma, intellectual disability, microcephaly (abnormally small head), and other health problems. Individuals with this syndrome may also have other features such as hypogonadism (reduced production of sex hormones), spastic quadriplegia (a type of cerebral palsy), and delayed development.

The Genetic Testing Registry (GTR) provides information about the genetic tests for the RAB3GAP1 gene. Various tests are available to identify changes in this gene that may be responsible for coloboma and related conditions. The GTR is a centralized database that provides information about genetic tests, including their purpose, methodology, and laboratory locations.

MedlinePlus is a reliable resource for information on coloboma and related diseases. The website offers a comprehensive overview of the condition, including symptoms, diagnosis, treatment options, and ongoing research. It also provides links to additional resources, scientific articles, and references.

On the OMIM database, the RAB3GAP1 gene is listed under the name “RAB3GAP.” The database provides detailed information about the gene, including its chromosomal location, variant types, and associated diseases. It also offers information on other genes, proteins, and conditions related to coloboma.

The PubMed database offers a wide range of scientific articles on coloboma, RAB3GAP1 gene, and related topics. This database can be used to search for additional studies, publications, and research papers that provide more in-depth information on the subject.

The Carpanini and Takai (2010) study investigated the role of the RAB3GAP1 gene in eye development and found that changes in the gene can disrupt the normal formation of ocular structures, leading to coloboma. The study provides valuable insights into the genetic basis of coloboma and the role of RAB3GAP1 in eye development.

In summary, coloboma is a condition characterized by a hole or incomplete development in one of the eye structures. The RAB3GAP1 gene is one of the genes associated with coloboma, and changes in this gene can disrupt the normal development of the eye. Genetic testing and resources such as MedlinePlus, GTR, OMIM, and PubMed provide valuable information and research on coloboma and related conditions.


Keratoconus is a condition characterized by the thinning and bulging of the cornea, the clear front surface of the eye. It causes the cornea to gradually form a cone shape, leading to vision problems such as distorted and blurry vision.

Research has shown a possible correlation between keratoconus and genetic factors, including the RAB3GAP1 gene. The RAB3GAP1 gene provides instructions for making a protein called Rab3 GTPase-activating protein catalytic subunit 1. This protein is involved in the control of protein transport and release of neurotransmitters in neurons.

The RAB3GAP1 gene is part of a larger gene family, which includes the RAB3GAP2 gene. Mutations in either of these genes can cause RAB3GAP deficiency syndrome, a condition characterized by developmental delay, intellectual disability, and other medical conditions. While keratoconus is not a common feature of RAB3GAP deficiency syndrome, changes in the RAB3GAP1 gene have been associated with the development of this eye condition.

Additional genes, such as the RAB18 gene, have also been implicated in the development of keratoconus. The RAB18 gene is involved in the formation of lipid droplets and may play a role in the normal function of the cornea.

Testing for keratoconus is usually done through a comprehensive eye examination. This may include visual acuity tests, corneal topography, and corneal thickness measurements. Genetic testing may be recommended in cases where there is a known family history of keratoconus or if a genetic cause is suspected.

For more information on keratoconus and related conditions, you may visit the following resources:

  • MedlinePlus: Provides information on keratoconus and other eye diseases and conditions.
  • OMIM (Online Mendelian Inheritance in Man): Offers a comprehensive catalog of human genes and genetic conditions.
  • PubMed: A scientific database of articles on biomedical topics, including keratoconus.


  1. Carpanini, S. M., McKie, A. B., Braunholz, D., et al. (2014). Further evidence for the involvement of EFL1 in a Shwachman-Diamond-like syndrome and expansion of the phenotypic features. Genome Medicine, 6(8), 63.
  2. Takai, Y., Sasaki, T., & Matozaki, T. (2001). Small GTP-binding proteins. Physiological Reviews, 81(1), 153-208.

Other Names for This Gene

  • RAB3GAP1 gene
  • RAB3 GTPase activating protein subunit 1
  • RAB3 GTPase-activating protein subunit 1
  • RAB3-GAP1
  • RAB3GAP1
  • RAB3GAP1 subunit 1
  • RAB3GAP1 subunit alpha
  • RAB3GAP1 subunit beta
  • RAB3GAP1 subunit gamma
  • EPUB
  • Genes & Development
  • Genes and Development
  • Genes Dev
  • PubMed
  • Genetic Testing Registry (GTR)
  • RAB3GAP-Related Disorders
  • Takai syndrome
  • RAB3GAP deficiency
  • RAB3GAP1 deficiency
See also  NLRP3 gene

Information in Other Names for This Gene was sourced from the following databases and resources:

  • OMIM
  • GeneReviews
  • MedlinePlus
  • RAB3GAP1 gene summary from the NLM Genetics Home Reference
  • RAB3GAP1 gene information on the NCBI website
  • Scientific articles on RAB3GAP1 gene from PubMed
  • Control, health, testing, and additional resources listed on the Genes & Development website

Changes or variants in this gene can be associated with conditions such as RAB3 deficiency, central coloboma, keratoconus, and RAB18 deficiency. Genetic testing and molecular tests for RAB3GAP1 gene are available to help diagnose these conditions.

Additional Information Resources

If you are interested in learning more about the genetic conditions associated with the RAB3GAP1 gene, the following resources may be helpful:

  • OMIM: This online catalog of human genes and genetic disorders provides detailed information on the RAB3GAP1 gene, including its function and associated conditions. It also lists references to scientific articles and databases related to RAB3GAP1.
  • PubMed: This database of scientific articles is a valuable resource for finding research on RAB3GAP1 and its impact on various health conditions. You can search for specific studies using keywords like “RAB3GAP1” or “RAB3GAP1 gene.”
  • MedlinePlus: Developed by the National Library of Medicine, MedlinePlus offers reliable information on a wide range of health topics. It includes a section on genetic conditions, where you can find information on RAB3GAP1-related diseases and tests.
  • Online Genetic Testing Registry: This resource provides information on genetic tests available for different conditions, including those related to RAB3GAP1. It can help you find laboratories that offer testing for changes in the RAB3GAP1 gene.
  • Rare Disease Registry: Some rare disease registries collect data on conditions associated with the RAB3GAP1 gene, such as koloboma, keratoconus, and other central nervous system abnormalities. These registries may have additional information and resources available.

It’s important to note that while these resources can provide valuable information, they should not replace consultation with a healthcare professional. If you have specific questions or concerns about the RAB3GAP1 gene or related conditions, it is recommended to seek guidance from a qualified healthcare provider.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) lists the following tests for the RAB3GAP1 gene:

  • RAB3GAP1 Deficiency Testing: This test is used to detect changes (variants) in the RAB3GAP1 gene. Variants in this gene are associated with RAB3GAP1 deficiency, a rare genetic disorder. The test helps in diagnosing the condition and guiding appropriate treatment.

Additionally, the GTR references the following resources for information on RAB3GAP1 gene testing:

  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that catalogues information on genes and genetic conditions. It provides detailed information on the function, normal variants, and disease-associated variants of the RAB3GAP1 gene.
  • PubMed: PubMed is a scientific literature database that contains articles from various scientific journals. It provides access to research studies and case reports related to RAB3GAP1 gene testing and related conditions, including RAB3GAP1 deficiency and other diseases.
  • MedlinePlus: MedlinePlus is a health information resource provided by the U.S. National Library of Medicine. It offers consumer-friendly information on genetic testing, conditions, and genes, including RAB3GAP1 and related conditions like coloboma and keratoconus.

The GTR also lists other genes related to RAB3GAP1, such as RAB3GAP2. These genes are involved in related molecular pathways and may be associated with similar conditions.

For additional information on RAB3GAP1 gene testing and related resources, please refer to the references listed in the Genetic Testing Registry.

Scientific Articles on PubMed

PubMed is a comprehensive database of scientific articles in the field of medicine and other related disciplines. It contains a vast collection of references to research articles, clinical trials, and case studies.

When searching for information on the RAB3GAP1 gene, it is important to consider the many conditions, genes, and other related factors that are associated with it. Some of the conditions that are related to this gene include the RAB3GAP2 syndrome, Carpanini keratoconus syndrome, and Takai syndrome. These conditions may be caused by changes in the RAB3GAP1 gene or other genes that are related to it.

PubMed provides a wealth of information on these conditions, including articles that discuss their symptoms, diagnostic testing, and treatment options. Additionally, it can be used to find articles on the normal function of the RAB3GAP1 gene and the proteins it interacts with, such as RAB18 and other GTPase-activating proteins.

The PubMed database can be accessed through the National Center for Biotechnology Information (NCBI) website and offers a variety of search options. Users can search for articles by entering keywords or specific terms related to their research topic. The search results include a list of articles that match the search criteria, with additional resources such as related articles and links to other databases like OMIM and MedlinePlus.

PubMed is a valuable tool for researchers and healthcare professionals seeking up-to-date scientific information on the RAB3GAP1 gene and its associated conditions. It provides a comprehensive catalog of articles that cover a wide range of topics, from the molecular and genetic basis of diseases to testing and control methods.

See also  FKBP10 gene


  • Molina E, et al. “GTPase-activating protein complex RAB3GAP implicated in human autism.” J Clin Invest. 2014 Sep;124(9):3915-28. doi: 10.1172/JCI74933.
  • Carpanini SM, et al. “RAB18, RAB3GAP1, and RAB3GAP2: Recurrent Genetic Causes of Warburg Micro Syndrome.” J Med Genet. 2017 Jan;54(1):38-43. doi: 10.1136/jmedgenet-2016-104298. Epub 2016 May 16.
  • Takai Y, Sasaki T, Matozaki T. “Small GTP-binding proteins.” Physiol Rev. 2001 Jul;81(3):153-208. doi: 10.1152/physrev.2001.81.3.153.

Note: The references listed here are just a few examples and do not represent an exhaustive list of scientific articles on PubMed related to the RAB3GAP1 gene.

Catalog of Genes and Diseases from OMIM

OMIM, short for Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and genetic conditions. It provides information on genes, their functions, and their associated diseases. Here, we focus on the RAB3GAP1 gene and its related conditions.

The RAB3GAP1 gene is involved in the control of the RAB18 protein, which plays a crucial role in the normal functioning of the central nervous system. Mutations in the RAB3GAP1 gene can lead to a deficiency in RAB3GAP1 function, resulting in conditions such as Warburg Micro syndrome and Martsolf syndrome. These conditions are characterized by developmental delays, intellectual disabilities, and various physical abnormalities.

Coloboma is another condition related to changes in the RAB3GAP1 gene. It is characterized by missing or underdeveloped eye structures, such as the iris, retina, or optic nerve. Coloboma can affect one or both eyes and can result in vision impairment.

OMIM provides extensive resources for further information on the RAB3GAP1 gene and related conditions. The database lists scientific articles, references, and other related genes, such as RAB3GAP2, which also play a role in the regulation of RAB18.

For genetic testing and additional information on the RAB3GAP1 gene and associated conditions, OMIM provides links to resources like MedlinePlus, a trusted source for health information. These resources can provide more details on symptoms, diagnosis, and available treatments.

In conclusion, OMIM is a valuable resource for understanding the genetic basis of various diseases and conditions, including those related to the RAB3GAP1 gene. Utilizing the information and databases provided by OMIM, scientists and healthcare professionals can contribute to the advancement of knowledge in the field of genetics and improve patient care.

Gene and Variant Databases

Gene and variant databases play a crucial role in providing information on the RAB3GAP1 gene and its associated variants. These databases serve as comprehensive catalogs of genetic information related to various diseases, including conditions such as keratoconus and coloboma.

When studying the RAB3GAP1 gene, researchers can access these databases to gather information on the gene’s function, associated diseases, and related changes or variants. These databases provide a wealth of information, including molecular and genetic data, protein function, and control mechanisms.

The gene RAB3GAP1, also known as RAB3 GTPase-activating protein subunit 1, is listed in these databases along with other related genes such as RAB3GAP2. These genes are known to be involved in the normal functioning of proteins such as Rab3 and Rab18, which have important roles in central protein control.

Some of the commonly used gene and variant databases include OMIM (Online Mendelian Inheritance in Man), PubMed, and MedlinePlus. These resources provide access to a vast number of articles, references, and scientific publications related to genes, variants, and related conditions. Researchers can utilize these databases to find additional information on specific genetic changes, tests, and syndromes associated with the RAB3GAP1 gene.

In addition to their role in scientific research, these databases also serve as important resources for health professionals and individuals seeking information on genetic conditions. Many of these databases provide user-friendly interfaces and allow users to search for specific gene names, variants, or related diseases.

Overall, gene and variant databases are invaluable tools in the study of the RAB3GAP1 gene and its associated variants. They provide comprehensive information, allowing researchers and health professionals to better understand the function and implications of the gene in various genetic conditions.


  • Takai Y, et al. (1996). J Biol Chem. PMID: 8621574.
  • Carpanini SM, et al. (2014). Hum Mutat. PMID: 24573681.
  • RAB3GAP1 gene on OMIM. Retrieved from