The OPN1SW gene, also known as the blue opsin gene, is responsible for producing a protein called cone opsin 1 (short-wavelength-2). This protein is crucial for normal color vision and is predominantly found in the cones of the retina.
Deficiency or genetic changes in the OPN1SW gene can cause a color-vision defect known as blue cone monochromacy. Individuals with this condition have reduced or absent function of blue cones, resulting in difficulties in distinguishing between certain colors. Testing for variants in the OPN1SW gene can help diagnose this condition and provide important information for making appropriate health-related decisions.
To learn more about the OPN1SW gene and its role in color vision, there are various resources available. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the gene, its associated reactions, and related conditions. Scientific articles on OPN1SW gene function, color-vision deficiency, and other related genes can be found in databases like PubMed. Additionally, there are color-vision testing resources, such as the Color Vision Deficiency catalog, for further reading and references.
Health Conditions Related to Genetic Changes
Genetic changes in the OPN1SW gene can cause various health conditions related to color vision deficiency. The OPN1SW gene provides instructions for making a protein called short-wavelength-sensitive opsin, which is involved in color vision. This protein is found in the cones of the retina, specialized cells that are responsible for color vision.
Scientific databases such as OMIM, PubMed, and others can provide additional resources for information on health conditions related to genetic changes in the OPN1SW gene. Some of the health conditions associated with genetic changes in this gene are:
- Blue cone monochromacy
- Blue cone dystrophy
- Blue cone monochromatism
- Blue color vision deficiency
These conditions cause a defect in the pigment of the cones, leading to a deficiency in color vision. The specific variant or changes in the OPN1SW gene can cause different types and severity of color vision deficiency. Individuals with these genetic changes may have difficulty distinguishing colors, particularly in the blue color range.
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Different names and codes are used to refer to these health conditions in various scientific articles and databases. For example, OMIM (Online Mendelian Inheritance in Man) and the Genetic and Rare Diseases (GARD) Information Center provide catalog entries and resources for these conditions.
Genetic testing and vision tests are available to diagnose the specific genetic changes and assess color vision deficiency. Genetic testing can identify the specific mutations or variants in the OPN1SW gene that cause the color vision deficiency.
References to articles and research papers on these health conditions can be found in scientific databases such as PubMed and Neurosci Abstracts.
| Resource | Description |
|---|---|
| OMIM | A comprehensive catalog of human genes and genetic disorders |
| PubMed | A database of scientific articles and research papers |
| Genetic and Rare Diseases (GARD) Information Center | Provides information on rare genetic diseases and related conditions |
| Neurosci Abstracts | A resource for neuroscience research abstracts |
Color vision deficiency
Color vision deficiency, also known as color blindness, is a condition that affects an individual’s ability to perceive and distinguish certain colors. It is often caused by genetic changes or mutations in the OPN1SW gene, which codes for the opsin protein found in the cones of the retina.
There are different types of color vision deficiency, with the most common being red-green color blindness. Individuals with this condition have difficulty distinguishing between shades of red and green. Other types include blue-yellow color blindness and complete color blindness.
Color vision deficiency can have a significant impact on an individual’s daily life, as it can affect various aspects such as driving, education, and the ability to work in certain professions that require color differentiation. It is important to note that color vision deficiencies are not related to intelligence or overall vision acuity.
Genetic testing is available to diagnose color vision deficiencies and identify specific genes or genetic changes that may be causing the condition. This can be done by analyzing the OPN1SW gene variant through various genetic testing resources. Additionally, individuals can access information and resources on color vision deficiency through databases such as OMIM (Online Mendelian Inheritance in Man), PubMed, and the National Institutes of Health’s Genetic Testing Registry.
Although there is currently no cure for color vision deficiency, there are tools and resources available to help individuals with this condition. For example, special glasses and filters can enhance color differentiation, while certain smartphone apps and online tools allow individuals to simulate the perception of colors for those with color vision deficiencies.
For additional health information on color vision deficiency and related genetic conditions, individuals can refer to scientific articles, references, and information provided by reputable sources such as the National Institutes of Health and the American Academy of Ophthalmology.
Other Names for This Gene
The OPN1SW gene, also known as the SWS1 opsin gene, is associated with the genetic code responsible for the production of a pigment protein in the cones of the eye. This gene is essential for normal color vision and visual function.
In addition to its scientific name, the OPN1SW gene is also referred to by other names, including:
- SWS1 opsin gene
- S opsin
- Short-wavelength-sensitive opsin 1
- Blue cone pigment
- Blue-cone monochromacy 2
- Color blindness, partial, protan series
- Color-vision defect, listed
These alternate names provide additional information on the function and role of this gene in various conditions and diseases related to color vision deficiency. Numerous articles and studies can be found on this gene in scientific literature, and further information can be obtained from genetic testing and resources such as OMIM, PubMed, and genetic databases.
Testing for changes or mutations in the OPN1SW gene can help diagnose color-vision defects and provide insights into the genetic basis of these conditions. The gene variant catalog and registry can offer valuable information on known genetic changes and their impact on color vision.
Understanding the function and reactions of the OPN1SW gene and related genes is crucial for making advancements in the field of visual neuroscience and improving the health and well-being of individuals with color-vision deficiencies.
Additional Information Resources
For additional information on the OPN1SW gene and related conditions, the following resources can be useful:
- Online Mendelian Inheritance in Man (OMIM): OMIM is a catalog of human genes and genetic disorders. The OPN1SW gene and its related conditions can be found by searching for the gene or the specific condition such as color-vision defect or deficiency.
- PubMed: PubMed is a database of scientific articles in the field of medicine and related disciplines. Searching for the OPN1SW gene or color vision changes can provide more scientific references and studies on the topic.
- The Human Gene Mutation Database (HGMD): HGMD is a comprehensive resource for genetic mutations associated with human diseases. It provides information on genetic variants of the OPN1SW gene and their impact on cones and pigment genes.
- The Color Vision Gene Testing Registry: This registry provides a list of laboratories and tests available for genetic testing of color vision genes, including the OPN1SW gene.
These resources can help in making informed decisions regarding genetic testing, understanding the function and variants of the OPN1SW gene, and finding related information on color vision and visual health.
Tests Listed in the Genetic Testing Registry
Genetic testing plays a crucial role in assessing an individual’s genetic health and identifying potential genetic disorders. In the context of vision, one of the genes that is often examined is the OPN1SW gene. This gene encodes the opsin protein, which is essential for color vision.
Deficiency or defects in the OPN1SW gene can cause genetic variants that result in color vision deficiencies or related visual impairments. To identify these genetic changes, several tests are available that focus on the OPN1SW gene and its function.
Genetic testing related to OPN1SW gene can be listed in the Genetic Testing Registry, an online resource that provides information on genetic tests. This registry offers a catalog of various tests for genetic conditions, including those associated with the OPN1SW gene.
These tests aim to identify specific genetic variants or defects in the OPN1SW gene that affect color vision function. By examining this gene, experts can determine if any changes in the gene’s sequence lead to color vision deficiencies or other visual impairments.
The Genetic Testing Registry provides information on these tests, including their names, descriptions, associated genes, and related conditions. It also includes details regarding the testing laboratories, their contact information, and testing availability.
In addition to the Genetic Testing Registry, there are other resources available for obtaining information on genetic testing for color vision deficiencies. These include scientific articles, databases, and references such as OMIM (Online Mendelian Inheritance in Man), PubMed, and more.
It is important to note that while genetic testing provides valuable information, it does not replace a comprehensive clinical evaluation. Additional visual function assessments may be necessary to confirm the presence and severity of color vision deficiencies.
| Resource | Description |
|---|---|
| Genetic Testing Registry | An online resource that provides information on genetic tests for various conditions, including color vision deficiencies. |
| OMIM | An online database that catalogues genetic conditions and their associated genes. |
| PubMed | A database of scientific articles on various topics, including color vision deficiencies and genetic testing. |
The availability of these resources and the advancements in genetic testing make it easier to identify and understand the genetic causes of color vision deficiencies. By making use of these resources, healthcare professionals can provide better guidance and support for individuals with color vision deficiencies.
Scientific Articles on PubMed
Color vision is a complex process that involves the reactions of proteins in the visual system. The OPN1SW gene, also known as the blue opsin gene, is responsible for making a protein that is involved in color vision. Genetic changes in this gene can cause color-vision deficiency or related visual conditions.
- The PubMed database is a valuable resource for finding scientific articles on this topic. It contains a vast collection of articles related to the OPN1SW gene and its function in vision.
- OPN1SW gene is also listed in the Online Mendelian Inheritance in Man (OMIM) database, which provides additional information on genetic diseases and conditions.
There are various tests available for testing color vision deficiency, including genetic testing. The registry of genetic tests can provide information on available tests and their names.
Scientific articles on PubMed provide insights into the function of the OPN1SW gene and its role in color vision. These articles often discuss genetic changes in the OPN1SW gene and their effects on color vision.
Some of the articles also explore other genes and proteins related to color vision, such as the cone opsin genes and the pigment genes. These studies help in understanding the molecular mechanisms involved in color vision.
References for scientific articles on the OPN1SW gene and color vision can be found in the catalog of PubMed. These references can be used to gather further information on the topic.
Overall, scientific articles on PubMed provide valuable information on the OPN1SW gene, color vision, and related diseases and conditions. They contribute to our understanding of the genetic basis of color-vision deficiency and can aid in the development of diagnostic tests and potential treatments for these conditions.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that catalogs genes and genetic variants associated with various diseases and conditions. It serves as a valuable resource for scientists, healthcare professionals, and individuals interested in understanding the genetic basis of human health.
This catalog includes information about the OPN1SW gene, which is responsible for encoding a protein called opsin. Opsin is a crucial component of the visual pigment in the cones of the retina, allowing us to perceive colors. Mutations or changes in the OPN1SW gene can lead to deficiencies in color vision, causing various color-related vision problems.
OMIM provides detailed information about the OPN1SW gene, including its function, genetic variant names, associated diseases, and references to scientific articles and publications. The catalog also lists other genes related to color-vision defects and provides additional information about the genetic causes of color-related conditions.
In addition to the OPN1SW gene, OMIM covers a wide range of genetic diseases and conditions. It offers information on the genetic variants, symptoms, inheritance patterns, and available diagnostic testing options. OMIM is particularly useful for healthcare professionals and researchers working in the field of genetics, as well as individuals seeking to understand the genetic basis of specific diseases.
The catalog of genes and diseases from OMIM is continuously updated, incorporating new research findings and discoveries. It also provides links to other resources, such as PubMed and genetic databases, making it easier for users to explore and access more information related to a specific gene or disease.
In conclusion, OMIM’s catalog of genes and diseases, including the OPN1SW gene, is a valuable resource for understanding the genetic basis of various health conditions. Whether you are a scientist, healthcare professional, or someone interested in genetics and health, OMIM provides comprehensive and up-to-date information to help you further your knowledge and research.
Gene and Variant Databases
Gene and variant databases provide essential information for researchers and healthcare professionals studying the OPN1SW gene and its related variants. These databases offer a comprehensive catalog of genetic changes in the OPN1SW gene and their associated functions, diseases, and conditions.
By understanding the function and variants of the OPN1SW gene, researchers can gain insights into how it affects color vision. The OPN1SW gene codes for the blue cone opsin protein, which is responsible for color vision in the blue part of the spectrum.
Variant databases list the specific changes or mutations that can occur in the OPN1SW gene. Different variants can lead to color vision deficiency or other changes in visual perception. Some variants may cause a complete loss of function, while others may result in a milder defect in color vision.
The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive resource for OPN1SW gene information, including genetic changes associated with color vision deficiency and related diseases. OMIM includes references to scientific articles, PubMed, and other resources to support research on the OPN1SW gene and its variants.
Additionally, there are databases specifically dedicated to color vision genes and variants. These databases include information on the OPN1SW gene as well as other genes involved in color vision. They provide comprehensive catalogs of genetic changes, variant names, and associated color vision conditions.
Genetic testing companies and health organizations often rely on these databases to interpret test results and provide accurate information to individuals seeking color vision testing. The databases can help identify specific variants that may cause color vision deficiencies and provide additional information on the associated color vision conditions.
In conclusion, gene and variant databases play a crucial role in understanding the OPN1SW gene and its variants. They provide researchers and healthcare professionals with essential information to make scientific and clinical decisions related to color vision testing, genetic changes, and associated conditions.
References
- Scientific Articles:
- OPN1SW gene: scientific studies on the genes and their role in color vision. Available at: [link]
- OMIM: a catalog of human genes and genetic disorders. OPN1SW gene deficiency and related conditions. Available at: [link]
- OPN1SW gene: tests and health information on color vision deficiency. Available at: [link]
- OPN1SW gene: articles on color vision and genetic changes in the OPN1SW gene. Available at: [link]
- National Center for Biotechnology Information (NCBI): scientific articles on OPN1SW gene and color vision. Available at: [link]
- Genetic and Rare Diseases Information Center (GARD): information on OPN1SW gene and related genetic conditions. Available at: [link]
- PubMed: research articles on the function and defects of the OPN1SW gene. Available at: [link]
- OPN1SW gene: additional resources and references for genetic testing. Available at: [link]
- Genetic Testing and Resources:
- Genetic Testing Registry: information on genetic tests for OPN1SW gene and related conditions. Available at: [link]
- OPN1SW gene: databases and resources for genetic testing and color vision deficiencies. Available at: [link]
- OPN1SW gene: names and variants associated with color vision deficiencies. Available at: [link]
- Genetic and Rare Diseases Information Center (GARD): information on genetic testing and color-vision deficiency. Available at: [link]
- OPN1SW gene: changes in the OPN1SW gene and their impact on color perception. Available at: [link]
- OPN1SW gene: making sense of genetic changes and their effect on color vision. Available at: [link]