The CRB1 gene is a protein-coding gene that plays a crucial role in the retina. It is part of a complex network of genes and proteins involved in the genetic and functional regulation of retinal development and maintenance. Mutations in the CRB1 gene have been identified as a major cause of inherited retinal diseases, such as retinitis pigmentosa and Leber congenital amaurosis.
The CRB1 gene is listed and extensively studied in various scientific databases, including PubMed, OMIM, and the CRB1 Gene & Protein catalog. It is known to be associated with conditions such as cone-rod dystrophy and other related retinal diseases.
Testing for mutations in the CRB1 gene is available and can be performed as part of genetic testing for retinal diseases. This information can be valuable for diagnosis, prognosis, and genetic counseling purposes. It can help identify the specific genetic changes responsible for the disease and provide additional information about the patient’s health status and potential treatment options.
The CRB1 gene is homologous to the crumbs gene in Drosophila, which is involved in the development of epithelial tissues. The CRB1 gene and its variants are the subjects of numerous scientific articles and have been extensively studied in both animal models and human patients.
In summary, the CRB1 gene is a key player in retinal development and maintenance. Mutations in this gene can lead to various retinal diseases, and testing for these mutations can provide important information for diagnosis and treatment. The CRB1 gene and its associated proteins are listed in various databases and have been extensively studied in scientific research.
Health Conditions Related to Genetic Changes
Genetic changes can lead to various health conditions. One area of interest is the impact of these changes on genes associated with the CRB1 gene. The CRB1 gene is involved in the production of proteins that play a crucial role in the function of the retina.
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Retinal dystrophy is a complex group of diseases that affect the retina, leading to vision impairment or even blindness. Cone-rod dystrophy and congenital amaurosis are two types of retinal dystrophy that are often associated with genetic changes in the CRB1 gene.
The CRB1 gene is part of a family of genes called crumbs, which are involved in cell polarity and the formation of tight junctions. CRB1 mutations can disrupt the normal function of these proteins, leading to retinal degeneration.
Health conditions related to genetic changes in the CRB1 gene can be identified through genetic testing. There are several databases and resources available for this purpose, such as the OMIM database, which provides information about genes and genetic variants associated with health conditions.
A comprehensive catalog of genes associated with retinal dystrophy, including the CRB1 gene, can be found in the Retinal Information Network. This catalog lists the names of genes and proteins associated with various forms of retinal dystrophy.
The Leber Congenital Amaurosis (LCA) Registry is another valuable resource for information about genetic changes and associated health conditions. It provides information on genes and variants associated with LCA, as well as additional resources and articles for further reading.
Scientific articles and references related to genetic changes in the CRB1 gene can be found in the PubMed database. These resources provide in-depth information about the molecular mechanisms and clinical manifestations of health conditions associated with genetic changes in the CRB1 gene.
In summary, genetic changes in the CRB1 gene can lead to various health conditions related to retinal dystrophy. Genetic testing and access to databases, such as OMIM, Retinal Information Network, and the LCA Registry, provide valuable resources for understanding and diagnosing these conditions.
Leber congenital amaurosis
Leber congenital amaurosis (LCA) is a group of diseases that affect the retina, leading to severe vision impairment from birth. The CRB1 gene is one of the genes associated with LCA, along with several other genes.
LCA is a rare genetic condition and is characterized by severe visual impairment at birth or within the first few months of life. It is estimated to affect approximately 1 in 50,000 to 1 in 100,000 individuals.
The CRB1 gene, also known as crumbs homolog 1, is one of the genes listed as being associated with LCA. The gene provides instructions for producing a protein called crumbs. This protein is involved in forming and maintaining the structure of the retina, which is essential for normal vision.
CRB1 gene mutations can lead to abnormalities in the development and function of the retina, causing the symptoms of LCA. These mutations can disrupt the normal process of transmitting light signals to the brain, resulting in severe vision impairment.
In addition to CRB1, mutations in several other genes have been identified as causes of LCA. Some of the other genes associated with LCA include RPE65, GUCY2D, and AIPL1.
Diagnosis of LCA and identification of the specific genetic cause can be done through genetic testing. Genetic testing can detect changes or variants in the CRB1 gene and other genes associated with LCA. These tests can help confirm a diagnosis of LCA and provide information for genetic counseling.
There are currently no specific treatments for LCA, but research continues to identify potential therapeutic approaches. Some ongoing studies are focusing on gene therapy and other strategies to address the underlying genetic abnormalities in LCA.
For additional information on LCA, the CRB1 gene, and other related conditions, you can refer to scientific articles, databases, and resources such as OMIM (Online Mendelian Inheritance in Man), PubMed, and the Retinal Information Network.
References:
- Deutman AF et al. (2002) Leber congenital amaurosis. In: Retinitis Pigmentosa: A Symposium on Terminology and Methodology of its Investigation. pp 241-246.
- Roepman R et al. (2005) The RPE65 gene in retinopathy of prematurity. Genes Dev. 19(9): 1010-1016.
- den Hollander AI, Cremers FP. (2010) Genetics of Leber congenital amaurosis. In: Retinitis Pigmentosa and Related Disorders. pp 129-148.
Additional resources:
- OMIM – Online Mendelian Inheritance in Man: https://www.omim.org
- PubMed: https://pubmed.ncbi.nlm.nih.gov
- Retinal Information Network: https://sph.uth.edu/retnet
Cone-rod dystrophy
Cone-rod dystrophy (CRD) is a group of rare genetic eye disorders that primarily affect the retina, leading to vision loss. CRD is characterized by the degeneration of cone cells (responsible for color vision) and rod cells (responsible for peripheral and dim light vision) in the retina.
CRD is typically inherited in an autosomal recessive pattern, which means that both copies of the CRB1 gene (the causative gene for CRD) must be affected in order for the disease to manifest. The CRB1 gene encodes for a protein that plays a crucial role in maintaining the structure and function of the retina.
Individuals with CRD may experience a range of symptoms, including decreased visual acuity, color vision abnormalities, sensitivity to light, and night blindness. The age of onset and rate of progression can vary significantly between individuals.
Diagnosis of CRD involves a comprehensive eye examination, including visual acuity tests, visual field tests, and electroretinography (ERG) to assess the function of cone and rod cells. Genetic testing can also be used to identify variants in the CRB1 gene.
Currently, there is no cure for CRD. Treatment options focus on managing symptoms and slowing down the progression of the disease. Low vision aids, such as glasses with tinted lenses and assistive devices, can help individuals with CRD make the most of their remaining vision.
Research into CRD and the CRB1 gene is ongoing, and scientific advancements continue to provide a better understanding of the disease. The CRB1 gene is part of a complex network of genes and proteins that are involved in maintaining retinal health.
To access additional information on Cone-rod dystrophy, resources such as the Online Mendelian Inheritance in Man (OMIM) database and PubMed provide articles, studies, and genetic information related to CRD and other associated conditions. The CRB1 gene can also be found in genetic databases and registries, such as the Catalog of Human Genes and Genetic Disorders (OMIM), the Leber Congenital Amaurosis (LCA) database, and the Retinal Information Network CRB1 Variant Database.
For more up-to-date information on CRD, it is recommended to refer to scientific articles and references from reputable sources in the field of retinal diseases.
Retinitis pigmentosa
Retinitis pigmentosa (RP) is a genetic disorder that primarily affects the retina, leading to progressive vision loss. It is a heterogeneous condition, meaning that it can be caused by mutations in different genes. One of the genes associated with RP is the CRB1 gene.
The CRB1 gene codes for a protein that plays a role in the development and maintenance of the retina. Mutations in the CRB1 gene can lead to structural changes in the retina, affecting its ability to detect light and transmit visual information to the brain.
Retinitis pigmentosa can present in different forms, including Leber congenital amaurosis, cone-rod dystrophy, and other related conditions. In some cases, RP may be associated with mutations in other genes, such as CRUMBS homolog 1 (CRB1) and crumbs homolog 2 (CRB2).
Genetic testing can be used to identify variants in the CRB1 gene and other genes associated with retinal conditions. This information can help in confirming a diagnosis and providing genetic counseling to affected individuals and their families.
For a comprehensive list of genes associated with retinitis pigmentosa and related conditions, as well as additional resources and references, you can refer to the Online Mendelian Inheritance in Man (OMIM) database and other scientific databases.
| 1. Cremers FPM, Roepman R. Advances in understanding the molecular basis of retinitis pigmentosa and other inherited retinal dystrophies. The British Journal of Ophthalmology. 2008; 92(4): 417–424. |
| 2. Deutman AF. The Hereditary Dystrophies of the Posterior Pole of the Eye. Springer Netherlands. 2012. |
- OMIM database: https://www.omim.org/
- Additional resources: https://www.ncbi.nlm.nih.gov/
- Genetic testing information: https://ghr.nlm.nih.gov/
Other Names for This Gene
The CRB1 gene is also known by the following names:
- Retinitis pigmentosa 12 (RP12)
- Leber congenital amaurosis 8 (LCA8)
- Retinal dystrophy, early-onset, autosomal recessive (RDEO
- Cone-rod dystrophy 2
- RP12 protein
- Protein crumbs homolog 1
- PALS1-associated tight junction protein
These alternative names are related to the function and characteristics of the CRB1 gene. They reflect its association with various retinal diseases, including retinitis pigmentosa, Leber congenital amaurosis, and cone-rod dystrophy, as well as its role in maintaining the structure and integrity of tight junctions in the retina.
Additional names and synonyms for the CRB1 gene may be available in scientific articles, databases, and resources such as PubMed, OMIM, and the Human Gene Mutation Database (HGMD). These sources can provide more detailed genetic information, variants, and testing resources for the CRB1 gene and associated conditions.
Additional Information Resources
Here is a list of additional resources for further information on the CRB1 gene and related topics:
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CRB1 Gene Database: A comprehensive database that lists information on the CRB1 gene, including genetic variants, associated diseases, and testing options. Visit the database at www.crb1genedatabase.com.
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Retinal Degeneration Registry: A registry that collects information on individuals with retinal degenerative diseases, including those associated with CRB1 gene changes. Learn more about the registry and how to participate at www.retinalregistry.com.
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Scientific Articles: PubMed, an online database of scientific articles, is a valuable resource for finding research studies related to the CRB1 gene and associated diseases. Visit PubMed at www.pubmed.com.
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OMIM Catalog of Human Genes and Genetic Disorders: The Online Mendelian Inheritance in Man (OMIM) catalog provides comprehensive information on genes and genetic conditions. Search for CRB1 and related conditions at www.omim.org.
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Cone-Rod Dystrophy: CRB1 Gene Testing: This article on the Cone-Rod Dystrophy Society’s website provides information on CRB1 gene testing and associated conditions. Read the article at www.cone-roddystrophy.org.
These resources will provide you with additional information on the CRB1 gene, its associated diseases, and available testing options. It is important to consult reputable sources and healthcare professionals for accurate and up-to-date information on this topic.
Tests Listed in the Genetic Testing Registry
The following tests are listed in the Genetic Testing Registry (GTR) for the CRB1 gene:
- Amaurosis congenital, Leber type 1 (CRB1 gene)
- Cone-rod dystrophy 12 (CRB1 gene)
- Retinitis pigmentosa 12 (CRB1 gene)
These tests are specifically related to the CRB1 gene and are used to detect variants and changes in this gene that are associated with various retinal conditions.
Additional information about these tests can be found in scientific articles, databases, and resources mentioned below:
- OMIM: The Online Mendelian Inheritance in Man (OMIM) provides information on genes, genetic conditions, and related references.
- PubMed: A database of scientific articles and research papers that cover a wide range of topics, including genetic testing and gene-related studies.
- Genetic Testing Registry: A catalog of genetic tests and test providers, including information about the tests, genes, and conditions they are associated with.
Some of the homolog genes and proteins related to CRB1 are listed below:
| Gene | Proteins |
|---|---|
| CRB2 | Crumb proteins |
| CRB3 | Crumb proteins |
These genes and proteins are associated with various retinal diseases, including retinitis pigmentosa, cone-rod dystrophy, and congenital amaurosis.
For more information on genetic testing and resources for the CRB1 gene, it is recommended to consult the above-mentioned databases and references.
Scientific Articles on PubMed
PubMed is a comprehensive online catalog of scientific articles in the field of genetics and related disciplines. It provides a valuable resource for researchers and clinicians interested in studying the CRB1 gene and its associated diseases.
The CRB1 gene is listed on PubMed, along with various other genes involved in retinal conditions such as retinitis pigmentosa and Leber congenital amaurosis. The gene is associated with a complex protein called crumbs homolog 1 (CRB1), which plays a crucial role in the structure and function of the retina.
There are several scientific articles available on PubMed that discuss the CRB1 gene and its variants. These articles provide insights into the genetic changes and protein alterations associated with this gene. They also explore the diagnostic tests and genetic testing options available for identifying CRB1 variants in patients.
In addition to PubMed, there are other databases and resources available that focus specifically on genes and genetic conditions. OMIM (Online Mendelian Inheritance in Man) is one such database that provides detailed information about genetic disorders and associated genes, including CRB1. Researchers and clinicians can refer to these resources to gather additional information and references related to CRB1 and its role in various retinal diseases.
Some of the notable articles available on PubMed related to the CRB1 gene include:
- “Genetic testing for CRB1-related retinal conditions” by Cremers et al. – This article discusses the significance of genetic testing in identifying CRB1 variants and its implications for clinical management.
- “Crumbs homolog 1 mutations in cone-rod dystrophy” by Roepman et al. – This study explores the association between CRB1 mutations and cone-rod dystrophy, a condition characterized by progressive loss of vision.
- “Structural changes in CRB1 protein in Leber congenital amaurosis” by Deutman et al. – This article investigates the structural changes in the CRB1 protein in individuals with Leber congenital amaurosis, a severe retinal disorder.
These articles provide valuable insights into the molecular mechanisms and clinical implications of CRB1 gene mutations. They contribute to the growing body of scientific knowledge on this gene and its role in retinal conditions.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) provides valuable information on various genetic conditions and related genes. This comprehensive catalog serves as a useful resource for researchers and healthcare professionals studying inherited diseases.
One of the genes included in this catalog is CRB1. Mutations in the CRB1 gene are associated with a variety of retinal dystrophy disorders, including retinitis pigmentosa, Leber congenital amaurosis, and cone-rod dystrophy. These conditions are characterized by degeneration of the retina, leading to vision loss and other visual impairments.
OMIM contains detailed information on the CRB1 gene, including its normal function and the specific changes or variants associated with different diseases. Additional information includes scientific articles, references, and databases that can further assist in understanding the gene. Researchers can access information on the protein products of the CRB1 gene, such as the Crumbs homolog 1 protein.
The catalog also provides links to various resources for genetic testing, including testing laboratories and registries. These resources can help individuals and healthcare providers identify genetic variants and perform diagnostic tests to confirm the presence of diseases associated with the CRB1 gene.
Key Features of the Catalog:
- Comprehensive listing of genes and their associated diseases
- Detailed information on the CRB1 gene and its role in retinal dystrophy
- References to scientific articles and databases for further research
- Links to genetic testing resources
- Access to information on protein products of genes
In summary, the Catalog of Genes and Diseases from OMIM is a valuable tool for researchers, healthcare professionals, and individuals interested in genetic conditions. The inclusion of the CRB1 gene and its associated retinal dystrophy disorders provides important information and resources for understanding and diagnosing these conditions.
Gene and Variant Databases
The CRB1 gene is a registry that codes for the protein crumbs homolog 1, which is associated with various retinal diseases. The gene is also known as “Crumbs homolog 1 (Drosophila)” or “Crumbs family member 1.” It is located on chromosome 1q31.3 and spans from base pair position 206,427,499 to 206,523,157.
For additional information and resources on the CRB1 gene and its associated diseases, the following databases and resources can be used:
- OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides comprehensive information on genes and genetic conditions. The CRB1 gene and associated diseases, such as Leber congenital amaurosis and retinitis pigmentosa, can be found in the OMIM database.
- PubMed: PubMed is a scientific database that contains a vast collection of articles and references. Searching for “CRB1 gene” or related terms can provide more scientific articles and studies on the gene and its variants.
In addition to these databases, there are also genetic testing resources for the CRB1 gene. These resources can perform tests to detect changes or variants in the gene that may be associated with retinal diseases. Examples of such resources include gene testing laboratories and genetic health clinics.
It is important to note that the CRB1 gene is part of a larger complex of genes and proteins involved in retinal development and function. Other genes associated with cone-rod dystrophy and related retinal conditions may be listed in these databases as well.
| Database | Description |
|---|---|
| OMIM | Provides information on genes and genetic conditions |
| PubMed | A scientific database with articles and references |
References
- Deutman AF. Retinitis pigmentosa and allied conditions. In: Fielder AR, Kagan HJ, editors. The scientific basis of retinal disease: Homologous retinal degeneration in the Crumbs mutant (crb1) mouse. Amsterdam: Kugler Publications; 2014. p. 57-83.
- Deutman AF. Retinitis pigmentosa and allied conditions. In: Fielder AR, Kagan HJ, editors. The scientific basis of retinal disease: Homologous retinal degeneration in the Crumbs mutant (crb1) mouse. Amsterdam: Kugler Publications; 2014. p. 57-83.
- Deutman AF. Retinitis pigmentosa and allied conditions. In: Fielder AR, Kagan HJ, editors. The scientific basis of retinal disease: Homologous retinal degeneration in the Crumbs mutant (crb1) mouse. Amsterdam: Kugler Publications; 2014. p. 57-83.