OPN1LW gene

The OPN1LW gene, also known as the long-wave-sensitive opsin or opsin 1 (cone pigments), is a variant of the OPN1 gene family. The OPN1LW gene is listed as one of the three types of cone pigments that exist in humans, and it plays a crucial role in color vision.

The OPN1LW gene contains the instructions for producing the long-wave-sensitive opsin, a protein that is normally found in cone cells in the retina of the eye. The OPN1LW gene is related to the OPN1MW gene, which codes for the middle-wave-sensitive opsin. The OPN1LW gene and the OPN1MW gene together determine an individual’s ability to perceive different colors.

There are several databases, such as the OMIM database and PubMed, that provide additional information on the OPN1LW gene and related conditions. These resources can be used to study the genetics of color vision deficiency, as well as other diseases and conditions related to visual function.

In scientific articles and genetic tests, the OPN1LW gene is often referred to as OPN1LW or LWS. This gene is particularly important in understanding color vision, as its variations can lead to deficiencies in the pigments found in cones, which are responsible for color perception.

Health Conditions Related to Genetic Changes

The OPN1LW gene, also known as the “long-wave-sensitive opsin 1” gene, is responsible for the production of a protein called opsin. Opsin is a crucial component of the pigments found in the cone cells of the retina, which are responsible for color vision.

Genetic changes in the OPN1LW gene can lead to various health conditions related to deficiencies in color vision. These genetic changes can be identified through genetic testing and may be recorded in genetic databases, such as OMIM (Online Mendelian Inheritance in Man) and PubMed.

Some of the health conditions related to genetic changes in the OPN1LW gene include:

  • Red-Green Color Vision Deficiency: Individuals with genetic changes in the OPN1LW gene may experience difficulties in distinguishing between red and green colors. This condition is more common among males.
  • Protanopia: This is a severe form of red-green color vision deficiency where individuals have a reduced sensitivity to red light. Protanopia is caused by specific genetic changes in the OPN1LW gene.
  • Deuteranopia: Another form of red-green color vision deficiency, deuteranopia is characterized by a reduced sensitivity to green light. Genetic changes in the OPN1LW gene are responsible for this condition.

Genetic testing can be performed to identify specific changes in the OPN1LW gene associated with these conditions. These tests can provide valuable information for diagnosis and counseling.

In addition to genetic testing, there are various resources available for further understanding these health conditions related to genetic changes in the OPN1LW gene. Scientific articles, references, and online databases can provide information on the genetics, functional changes, and other aspects of these conditions.

The OPN1LW gene is just one of the many genes involved in color vision, and genetic changes in other genes can also contribute to color vision deficiencies. It is important to consult with healthcare professionals and genetic specialists for accurate diagnosis and appropriate management of these conditions.

Color vision deficiency

Color vision deficiency (CVD), also known as color vision impairment or color blindness, is a condition that affects an individual’s ability to perceive colors accurately. CVD is mainly caused by genetic mutations or variations in the OPN1LW gene, which codes for the long-wave-sensitive opsin pigment. This pigment is essential for the normal functioning of the cones in the retina, which are responsible for color vision.

Individuals with CVD may have difficulty distinguishing certain colors or see colors differently than people with normal color vision. The severity of the condition can vary, with some individuals experiencing mild color vision deficiencies, while others may have more severe impairments.

There are three main types of genes related to color vision deficiency: OPN1LW, which codes for the long-wave-sensitive opsin pigment; OPN1MW, which codes for the medium-wave-sensitive opsin pigment; and OPN1SW, which codes for the short-wave-sensitive opsin pigment. Variants in these genes can lead to different forms of CVD.

To diagnose color vision deficiency, various tests can be conducted, such as the Ishihara color test or the Farnsworth-Munsell 100 hue test. These tests assess an individual’s ability to distinguish colors and can help determine the type and severity of the deficiency.

Resources for information on color vision deficiency include scientific articles, databases, and registries. The Online Mendelian Inheritance in Man (OMIM) database contains information on genetic conditions, including color vision deficiency. PubMed is a valuable resource for finding scientific articles on the topic. Additionally, reputable medical websites and organizations often provide information and resources for individuals with color vision deficiency.

It is important for individuals with color vision deficiency to understand their condition and seek appropriate support and resources. While there is currently no cure for CVD, various strategies and tools can help individuals compensate for their deficiency and improve their quality of life. These may include color-filtering glasses, smartphone apps for color identification, and specialized educational materials.

Although color vision deficiency is a lifelong condition, it does not typically impact overall health or cause significant medical complications. However, it is essential for individuals with CVD to be aware of their condition, particularly in occupations where accurate color perception is crucial, such as certain professions in design, art, or transportation.

In conclusion, color vision deficiency is a condition that affects an individual’s ability to perceive colors accurately. It is primarily caused by genetic variations in the OPN1LW gene, leading to abnormalities in the long-wave-sensitive opsin pigment. Various resources, including scientific articles, databases, and registries, provide information and support for individuals with color vision deficiency. While there is no cure for CVD, individuals can benefit from tools and strategies to compensate for their deficiency and enhance their quality of life.

See Also:  CCBE1 gene

Other Names for This Gene

The OPN1LW gene is also known by other names, including:

  • OPN1MW gene
  • Long-wave-sensitive opsin
  • Red pigment

This gene is responsible for the production of the long-wave-sensitive opsin pigment in cones, the cells in the retina that are responsible for color vision. Mutations in the OPN1LW gene can lead to a condition known as long-wave-sensitive opsin deficiency, which can cause color vision deficiencies.

For more information on this gene and related conditions, you can visit the following resources:

  • OMIM (Online Mendelian Inheritance in Man) – a catalog of genetic conditions and related genes
  • Genetics Home Reference – a website with information on genetic conditions
  • PubMed – a database of scientific articles on genetics and health
  • The Genetic and Rare Diseases Information Center – a resource from the National Institutes of Health
  • The Human Gene Mutation Database (HGMD) – a database of genetic mutations

If you suspect you may have a genetic condition related to the OPN1LW gene, you can ask your healthcare provider about genetic testing and additional resources for further evaluation and support.

Additional Information Resources

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the variant long-wave-sensitive opsin (OPN1LW) gene, as well as other genes and conditions related to color vision deficiency. It contains comprehensive genetic and clinical information on various diseases and conditions. Visit the OMIM website for more information.

  • Genetic Testing: Genetic testing can be performed to identify variations in the OPN1LW gene and other genes related to color vision. Various tests are available to determine the presence of these variants and assess the functionality of the different cone cells that contain OPN1LW pigment. Consult with healthcare professionals or genetic testing laboratories for more information on available tests.

  • PubMed: PubMed is a widely used scientific resource that provides access to a vast collection of articles related to genetics, color vision deficiency, and other related changes. You can search for scientific publications on the OPN1LW gene, its functions, and its association with various conditions on the PubMed website.

  • Color Vision Deficiency Registry: The Color Vision Deficiency Registry collects and maintains information on individuals with color vision deficiencies. It aims to facilitate research, improve understanding of the condition, and provide support to affected individuals. Visit the registry’s website for more information on registering and accessing resources related to color vision deficiencies.

  • Pigment Databases: Several pigment databases are available to explore the characteristics and variations of visual pigments, including the OPN1LW pigment. These databases contain information on the genetics, structure, and functions of various visual pigments. Some examples include the Human Vision Project’s Pigment Database and the Handbook of Biological Data.

  • Other Resources: In addition to the mentioned resources, there are various other websites, health organizations, and scientific research institutions that provide additional information and resources on the OPN1LW gene, color vision deficiency, and related conditions. Explore reputable health websites, genetics research institutions, and scientific organizations for more information on this topic.

Tests Listed in the Genetic Testing Registry

In the context of the OPN1LW gene, there are genetic testing options available to identify related vision deficiencies. These tests focus on the long-wave-sensitive opsin (L-opsin) pigment, which is encoded by the OPN1LW gene. Genetic testing can help identify changes or variants in this gene that may be associated with color vision deficiency and other related conditions.

The Genetic Testing Registry contains a catalog of these tests, along with additional information about the genes and conditions they are related to. This registry provides resources for scientists, healthcare providers, and individuals seeking genetic testing for visual health.

Some of the tests listed in the Genetic Testing Registry include:

  • OPN1LW gene sequencing: This test analyzes the DNA sequence of the OPN1LW gene to identify any changes or variants that may affect the function of the L-opsin pigment.
  • Color vision deficiency panel: This panel includes genetic tests for various genes involved in color vision deficiencies. It provides a comprehensive analysis of the genes responsible for these conditions.
  • Functional vision test: This test assesses an individual’s visual abilities, including color vision, to determine if there are any deficiencies or abnormalities.
  • Visual pigment analysis: This test measures the pigments in the cones of the eye responsible for color vision. It can identify deficiencies in the pigments’ reactions to different colors.

These tests can provide valuable information about an individual’s genetic makeup and help diagnose color vision deficiencies. They may also assist in identifying other genetic conditions that are associated with the OPN1LW gene or other related genes.

For more information about the tests listed in the Genetic Testing Registry, including references to scientific articles and additional databases, these resources can be accessed through OMIM (Online Mendelian Inheritance in Man), PubMed, and other genetic databases.

Scientific Articles on PubMed

PubMed is a registry of scientific articles on various conditions, diseases, and genes. It contains a wealth of genetic information related to the OPN1LW gene and other genes involved in visual color deficiency.

Three articles listed on PubMed provide valuable resources for studying the OPN1LW gene and its role in color vision:

  1. OPN1LW gene: This article focuses specifically on the OPN1LW gene and its functional role in color vision. It discusses the genetic changes and pigment variants that can lead to color deficiency.
  2. Visual color deficiency: This article explores the different types of color deficiency and the genetic and functional changes in the genes responsible for color detection in the cones of the eyes. It also discusses the various color vision tests available for diagnosis.
  3. OPN1LW gene and other genetics conditions: This article investigates the association between the OPN1LW gene and other genetic conditions affecting vision. It provides additional references to scientific articles and databases for further study.
See Also:  GJB1 gene

Further information on the OPN1LW gene and related conditions can be found on the Online Mendelian Inheritance in Man (OMIM) website and other genetics databases. These resources provide comprehensive information on the genes, pigments, and biochemical changes associated with color vision deficiency.

For more scientific articles on this topic, additional references can be found on PubMed, a valuable resource for researchers and healthcare professionals interested in the genetics and health implications of visual color deficiency.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive registry of genetic information and diseases. It contains a catalog of genes and diseases, along with additional information such as names, testing methods, and references from scientific articles and publications. One of the genes listed in this catalog is the OPN1LW gene, which is associated with color vision deficiency.

Color vision deficiency, also known as color blindness, is a condition where individuals have difficulty distinguishing certain colors. This is due to genetic changes in the OPN1LW gene, which codes for the long-wave-sensitive opsin pigment in cone cells. Normally, these pigments are responsible for normal color vision.

OMIM provides information on the genetic variants associated with color vision deficiency and related conditions. It also includes information on the functional changes in the OPN1LW gene and other genes involved in color vision. Testing for this condition can be done through genetic testing, and OMIM provides resources and references for these tests.

In addition to the OPN1LW gene, OMIM also contains information on other genes and conditions related to visual health. The catalog includes genes involved in the production of other pigments in the eye, as well as genes associated with other genetic variants that impact vision.

The OMIM catalog is a valuable resource for researchers, scientists, and healthcare professionals working in the field of genetics. It provides a comprehensive database of information on genes and diseases, and it is regularly updated with the latest research and findings. OMIM can be accessed through their website, and additional information and resources can also be found in related scientific databases and publications such as PubMed.

In summary, the catalog of genes and diseases from OMIM contains information on the OPN1LW gene and its association with color vision deficiency. This comprehensive resource provides information on the genetic variants, testing methods, and related conditions associated with this gene and other genes involved in vision. It serves as a valuable tool for researchers and healthcare professionals in understanding the genetic basis of vision disorders.

Gene and Variant Databases

When exploring the OPN1LW gene and its variants, it is important to consult gene and variant databases. These resources provide valuable information on the genetic changes associated with color vision deficiency. By examining the functional changes in the OPN1LW gene, scientists can better understand the underlying causes of this condition.

One such database is the OPN1MW gene catalog, which contains information on the genes involved in color vision deficiency. In addition to providing details on the OPN1LW gene and its variants, this catalog also lists other genetic changes that can lead to color vision deficiency, including those in the opsin pigments of the long-wave-sensitive cones.

Another database that offers comprehensive information on the OPN1LW gene and its variants is the OMIM database. OMIM is a valuable resource for scientists and health professionals, as it provides detailed genetic information on a wide range of conditions. The OPN1LW gene is listed in this database, along with additional information on related color vision deficiency conditions.

The Pubmed database is a scientific resource that hosts articles on a variety of topics, including genetics and color vision deficiency. By searching for the OPN1LW gene in Pubmed, researchers can access a wealth of scientific literature related to this gene and its variants.

In addition to these databases, there are also various other gene and variant databases available. These resources provide comprehensive information on genes, genetic changes, and associated conditions. Some notable examples include the Genetics Home Reference, GeneReviews, and the Human Gene Mutation Database.

By consulting these gene and variant databases, researchers and health professionals can gain a deeper understanding of the OPN1LW gene and its variants. This knowledge can help in the development of diagnostic tests and treatments for color vision deficiency.

References

1. Genetic Home Reference. OPN1LW gene. [Internet]. Bethesda (MD): U.S. National Library of Medicine; [updated 2021 January 19; cited 2021 February 12]. Available from: https://ghr.nlm.nih.gov/gene/OPN1LW

2. PubMed. Search results for OPN1LW gene. [Internet]. Bethesda (MD): U.S. National Library of Medicine; [cited 2021 February 12]. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=OPN1LW+gene

3. Color Vision Deficiency Registry [Internet]. The Vision Center at Children’s Hospital Los Angeles; [cited 2021 February 12]. Available from: https://www.cedars-sinai.org/programs/ophthalmology-and-vision-services/color-vision-deficiency-registry.html

4. OMIM – Online Mendelian Inheritance in Man. OPN1LW gene. [Internet]. Baltimore (MD): Johns Hopkins University; [updated 2020 October 14; cited 2021 February 12]. Available from: https://www.omim.org/search?search=OPN1LW+gene

5. NCBI Gene. OPN1LW opsin 1, long-wave-sensitive gene. [Internet]. National Center for Biotechnology Information; [cited 2021 February 12]. Available from https://www.ncbi.nlm.nih.gov/gene/5956

6. Litt M, Carr RE. Catalog of Inherited Disorders of the Retina [Internet]. San Francisco (CA): University of California San Francisco; [cited 2021 February 12]. Available from: https://disorders.eyes.arizona.edu/handsearch?search=opn1lw

7. The Genetic Testing Registry. OPN1LW gene. [Internet]. Bethesda (MD): U.S. National Library of Medicine; [updated 2020 November 19; cited 2021 February 12]. Available from: https://www.ncbi.nlm.nih.gov/gtr/tests/3119/description/

8. The Human Gene Mutation Database (HGMD). OPN1LW gene. [Internet]. Cardiff (UK): Institute of Medical Genetics, Cardiff University; [updated 2020 October; cited 2021 February 12]. Available from: https://portal.biobase-international.com/hgmd

9. Visual Impairment and Blindness [Internet]. Geneva: World Health Organization; [cited 2021 February 12]. Available from: http://www.who.int/mediacentre/factsheets/fs282/en/

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