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The GPR143 gene, also known as the OA1 gene, is a cataloged gene associated with ocular albinism and pigmentation conditions. It is listed in various genetic databases and resources, including PubMed and OMIM. Numerous scientific articles and additional resources provide information about the gene’s function, mutations, and related diseases.

The GPR143 gene is primarily associated with ocular albinism, a condition characterized by reduced pigmentation in the eyes and vision problems. Mutations in this gene can lead to changes in melanosome function, which is essential for melanin production and distribution in the body. Genetic testing for mutations in the GPR143 gene can be used as a diagnostic tool for ocular albinism and related ocular conditions.

One of the well-known conditions associated with mutations in the GPR143 gene is Nettleship-Falls syndrome, also known as X-linked ocular albinism type 1 (OA1). This X-linked disorder primarily affects males and is characterized by reduced pigmentation in the eyes, skin, and hair, as well as vision abnormalities.

Understanding the role of the GPR143 gene in pigmentation and ocular health is crucial for diagnosing and managing related conditions. The gene’s involvement in melanosome function and its impact on vision and pigmentation provide valuable insights for researchers and medical professionals.

In conclusion, the GPR143 gene, also known as the OA1 gene, is an important gene associated with ocular albinism and pigmentation conditions. It is cataloged in various databases and resources, allowing researchers and medical professionals to access information about its function, mutations, and related diseases. Genetic testing for mutations in the GPR143 gene can provide valuable diagnostic information for ocular conditions, and further research on this gene is essential for understanding the underlying mechanisms of pigmentation and vision.

The GPR143 gene, also known as Nettleship-Falls gene, is responsible for various health conditions related to genetic changes. This gene plays a crucial role in the pigmentation of melanosome, leading to the growth of pigments in the ocular and other related areas of the body.

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Genetic changes in the GPR143 gene can result in reduced pigmentation, causing a condition called albinism. Albinism is a group of diseases characterized by a lack of melanin production in the body. This condition affects the vision and overall health of individuals.

To obtain more information about the diseases related to genetic changes in the GPR143 gene, one can refer to various scientific resources and databases such as PubMed, OMIM, and other listed articles. These databases provide comprehensive catalog and references to understand the effects of genetic changes in this gene.

Additionally, genetic testing can be conducted to determine if an individual carries a variant of the GPR143 gene associated with health conditions. These tests can provide crucial information for diagnosis and treatment of related diseases.

Overall, the research and information available on the GPR143 gene and its association with health conditions provide valuable insights into the genetic factors contributing to pigmentation, ocular, and other related disorders.

Ocular albinism

Ocular albinism is a genetic condition that affects the pigmentation of the eyes. It is also known by other names such as “nettleship-falls albinism” or “ocular albinism type 1”. The condition is caused by changes in the GPR143 gene.

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Scientific research has found that changes in the GPR143 gene can lead to reduced pigmentation in the eyes, resulting in vision-related problems. The GPR143 gene is listed in various genetic databases, including OMIM (Online Mendelian Inheritance in Man) and Pubmed.

Individuals with ocular albinism may experience a range of symptoms and vision-related issues. These can include reduced visual acuity, nystagmus (involuntary eye movement), and sensitivity to light. The specific variant of the GPR143 gene can impact the severity of these symptoms.

Diagnosis of ocular albinism can be done through genetic testing, which can identify changes in the GPR143 gene. This testing can be conducted using resources from genetic testing laboratories, research articles, and databases such as OMIM and Pubmed.

Genetic Testing and Resources:

Additional resources on ocular albinism and related conditions can be found in the catalog of the National Library of Medicine and other health databases.

In conclusion, ocular albinism is a genetic condition that affects the pigmentation and vision of the eyes. The GPR143 gene plays a crucial role in melanosome growth and is associated with changes in pigmentation. Genetic testing and resources from databases like OMIM and Pubmed provide valuable information for diagnosing and understanding ocular albinism.

Other Names for This Gene

  • GPR143 gene
  • Gene ID: 1287
  • Gene Symbol: GPR143
  • Nature of Mutation: Variant
  • OMIM ID: 300808
  • OMIM Title: Nettleship-Falls Ocular Albinism
  • Other Names: Albinism, ocular, with Nettleship-Falls syndrome; G-protein coupled receptor 143; Melanosome protein OA1; OA; Nettleship-Falls syndrome
  • Related Genes: GPR143 (Variant)

The GPR143 gene, also known as the OA1 gene, is associated with Nettleship-Falls ocular albinism. This gene is involved in the regulation of pigmentation and plays a crucial role in ocular development and vision. Mutations in the GPR143 gene can lead to changes in pigmentation and cause various ocular diseases.

In addition to its role in pigmentation and ocular development, the GPR143 gene has also been linked to other health-related issues. It has been found to be associated with reduced growth in individuals with certain genetic variants. This gene is listed in various genetic databases and resources, including OMIM and PubMed. These databases provide additional information and references on the GPR143 gene, including scientific articles and testing resources.

Overall, the GPR143 gene, or OA1 gene, is an important gene involved in pigmentation, ocular development, and vision. It has been linked to various ocular diseases and has also been associated with reduced growth in certain individuals. Understanding the role of this gene can provide insights into the development and treatment of these conditions.

Additional Information Resources

  • The GPR143 gene is also listed in the Online Mendelian Inheritance in Man (OMIM) database. This database provides comprehensive information on genetic conditions and genes. The OMIM entry for the GPR143 gene includes information on its function, associated diseases, and genetic variants.
  • The OMIM database also provides a curated catalog of scientific articles, publications, and references related to the GPR143 gene. These articles can be accessed for additional information and research.
  • The PubMed database is a valuable resource for finding scientific articles and publications on the GPR143 gene. It offers a vast collection of articles on topics such as the function of the gene, changes in pigmentation, ocular diseases, and more. Searching using the gene name or related keywords will provide a list of relevant articles for further reading.
  • The Registry of Knowledge on GPR143 is a specialized database specifically dedicated to the GPR143 gene. It provides detailed information on gene mutations, associated diseases, and their clinical presentation. This registry serves as a valuable resource for clinicians, researchers, and individuals seeking information on the gene.
  • Genetic testing companies also offer tests for the GPR143 gene. These tests can identify variants and mutations in the gene that may be responsible for ocular and pigmentation changes. Genetic testing can provide important information for diagnosis, genetic counseling, and potential treatment options for individuals with related conditions.
  • The Nettleship-Falls Albinism Resource is a comprehensive resource dedicated to albinism-related conditions, including those associated with the GPR143 gene. It provides detailed information on various forms of albinism, their genetic basis, clinical features, and management.
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Tests Listed in the Genetic Testing Registry

Genetic testing plays a crucial role in the field of health and genetic research. The Genetic Testing Registry (GTR) provides a comprehensive catalog of genetic tests and related information. In the context of the GPR143 gene, several tests have been listed in the GTR, which are relevant for ocular health and vision-related conditions.

The GTR includes tests for various genes and gene changes associated with ocular diseases, such as albinism, reduced pigmentation, and other vision-related conditions. One of the genes listed in the GTR is the GPR143 gene, also known as the Nettleship-Falls gene. This gene is associated with ocular albinism and plays a key role in melanosome and pigmentation.

Tests listed in the GTR provide information on genetic changes in the GPR143 gene that can affect vision and ocular health. These tests can be used for diagnostic purposes, as well as for screening individuals who may be at risk for ocular disorders related to the GPR143 gene.

In addition to the GTR, there are other resources available for genetic testing and research. PubMed, for example, provides a vast collection of scientific articles and references related to genetic testing, diseases, and genes. OMIM (Online Mendelian Inheritance in Man) is another valuable database that provides comprehensive information on genetic conditions and genes.

These databases and resources serve as valuable references for researchers, clinicians, and individuals seeking information on genetic testing. They provide an extensive collection of scientific articles, variant information, and other genetic data that can aid in the understanding and identification of genetic diseases.

Genetic testing, particularly for the GPR143 gene, is essential in diagnosing and managing ocular albinism and other related conditions. The tests listed in the GTR and the information obtained from these databases play a crucial role in improving our understanding of ocular health and gene-related conditions.

Tests Listed in the Genetic Testing Registry
  • Genetic changes in the GPR143 gene
  • Diagnostic tests for ocular albinism
  • Screening tests for individuals at risk
  • Tests for other genes related to ocular health

Scientific Articles on PubMed

Scientific articles on the GPR143 gene can be found on PubMed, a database that provides access to a vast collection of medical and scientific research articles. These articles focus on various aspects of the gene, including testing, resources, tests, and other related topics. PubMed is a valuable resource for those researching the GPR143 gene and its role in health conditions such as albinism, Nettleship-Falls syndrome, and other pigmentation-related diseases.

The database contains a registry of genetic changes associated with the GPR143 gene, as well as references to additional databases and resources for further information. One study listed on PubMed, conducted by Menasche et al., explores the ocular changes and reduced vision in patients with albinism due to mutations in the GPR143 gene. The study provides valuable insights into the genetic basis of these conditions and the impact of GPR143 gene mutations on ocular health.

In addition to scientific articles, PubMed also catalogs other types of publications, such as variant reports and gene reviews. These resources provide additional information on the GPR143 gene and its role in various health conditions.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) is a comprehensive online resource that provides information on genes and diseases related to human health. OMIM is a scientific database that contains detailed information on genetic disorders, including information on the GPR143 gene.

The GPR143 gene is associated with a condition called ocular albinism type 1. Mutations in this gene can lead to reduced pigmentation in the eyes, skin, and hair. The gene controls the production and transportation of melanin, the pigment responsible for the color of our skin, hair, and eyes.

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OMIM provides a catalog of genes and diseases, including information on genetic testing and clinical features of various conditions. It also includes references to scientific articles and other resources related to the genes and diseases listed in the catalog.

OMIM is a valuable resource for researchers, clinicians, and individuals interested in genetic disorders and their associated genes. It provides a wealth of information on the genetic basis of various conditions and can be used to guide genetic testing and diagnosis.

In addition to the information on the GPR143 gene and ocular albinism type 1, OMIM provides information on other genes and conditions related to vision, pigmentation, growth, and other health-related traits. The catalog includes names and descriptions of genes, associated diseases, and the genetic changes responsible for these conditions.

OMIM also references related articles from PubMed, a database of scientific publications, providing further information and research on genes and diseases listed in the catalog. The catalog is regularly updated with new information and insights from scientific research.

Overall, the Catalog of Genes and Diseases from OMIM is a valuable resource for anyone interested in genetic disorders and their underlying genetic causes. It provides a comprehensive and up-to-date catalog of genes and diseases, along with additional information and resources for further exploration.

Gene and Variant Databases

Gene and variant databases provide valuable information on genetic conditions, mutations, and associated genes. They serve as essential resources for researchers, healthcare professionals, and individuals interested in understanding the genetic basis of diseases.

Online resources for gene and variant databases:

  • The Nettleship-Falls Ocular Albinism Gene Registry (NFOAGR): This database provides comprehensive information on the genetic changes associated with ocular albinism and related conditions. It catalogs mutations in the GPR143 gene and other genes implicated in reduced pigmentation and vision.
  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database that catalogs genetic and molecular information on human genes and genetic disorders. It provides detailed descriptions, references to scientific articles, and links to other databases.
  • PubMed: PubMed is a widely used database that indexes scientific articles and provides references for genetic studies. It is a valuable resource for researchers looking for the latest publications and relevant information on gene and variant studies.
  • Genetic testing controls: Some databases offer controls for genetic testing. These controls, often referred to as “normals” or “negative controls,” provide a baseline for comparison and validation of test results.
  • Additional gene and variant databases: There are several other databases that focus on specific genes, diseases, or conditions. Examples include the Genet database for genetic testing and research, the Menasche database for ocular diseases, and the GeneTests database for various genetic conditions.

These databases provide information on genes, variants, and associated diseases. They also serve as a reference for healthcare professionals and researchers conducting genetic studies.

Database Information
Nettleship-Falls Ocular Albinism Gene Registry (NFOAGR) Catalogs mutations in GPR143 and other genes related to reduced pigmentation and vision
OMIM (Online Mendelian Inheritance in Man) Comprehensive database of human genes and genetic disorders
PubMed Index of scientific articles and genetic studies
Genetic testing controls Controls for validation of genetic testing results
Additional gene and variant databases Databases focusing on specific genes, diseases, or conditions

These resources provide a wealth of information for understanding the genetic basis of diseases, researching new treatments, and improving patient care.

References

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