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The OCRL gene, also known as the oculocerebrorenal syndrome of Lowe (OCRL) gene, is responsible for a certain function in our cells. It is categorized as one of the OMIM genes, meaning it can be found in the Online Mendelian Inheritance in Man (OMIM) database.

The OCRL gene is a hotspot for scientific research. Over the years, this gene has been extensively studied and analyzed. Various scientific articles, publications, and resources have emerged with information related to the OCRL gene. From PubMed to gene databases, there are numerous destinations where researchers can find additional articles and data about this gene.

The central focus of the OCRL gene is in targeting and reducing the occurrence of genetic diseases like the oculocerebrorenal syndrome (OCRL1 disease). This disease affects the kidneys, eyes, and central nervous system, and it is caused by various mutations in the OCRL gene. Through testing and analysis, scientists aim to identify any changes or variant forms of the OCRL gene that may be associated with this disease.

Furthermore, the OCRL gene plays a crucial role in ensuring the health and proper function of our cells. It is involved in the production and regulation of certain proteins and enzymes that are essential for the cells’ normal functioning. Any abnormalities or mutations in this gene can disrupt this delicate network and lead to health conditions and diseases.

In summary, the OCRL gene is a significant player in maintaining our overall well-being. From scientific research and articles to genetic testing and disease prevention, the understanding and analysis of this gene have paved the way for targeted interventions and treatments to eliminate and compensate for genetic diseases that are linked to the OCRL gene.

Genetic changes in the OCRL gene can lead to various health conditions. The OCRL gene is responsible for producing a protein that plays a crucial role in the function of certain cells in the body. Mutations in this gene can cause a range of diseases and syndromes.

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One of the health conditions associated with genetic changes in the OCRL gene is Oculocerebrorenal syndrome of Lowe (OCRL). This syndrome affects the eyes, brain, and kidneys. Individuals with OCRL may experience vision problems, developmental delays, intellectual disability, and kidney disease.

In addition to OCRL, other health conditions linked to genetic changes in the OCRL gene include Dent disease and Lowe syndrome. Dent disease primarily affects the kidneys, leading to problems with the reabsorption of certain proteins and enzymes. Lowe syndrome, on the other hand, affects multiple systems in the body and can cause intellectual disability, vision problems, and kidney abnormalities.

Diagnosing health conditions related to genetic changes in the OCRL gene can be done through genetic testing. Tests can identify mutations in the gene and confirm the presence of specific conditions. Online databases such as OMIM (Online Mendelian Inheritance in Man) and the OCRL Gene Variant Database provide resources and information on the different variants and associated health conditions.

The OCRL gene is part of a network of genes and proteins that work together to ensure the proper functioning of cells. When there are changes or mutations in the gene, this network may be disrupted, leading to health problems.

Genetic changes in the OCRL gene can be inherited from parents or occur spontaneously. For individuals with known genetic changes in the OCRL gene, genetic counseling can provide important information on the likelihood of passing the condition on to future generations.

Research on the OCRL gene and its related health conditions is ongoing. Scientific articles published in PubMed and other scientific journals provide valuable information and insights into the function of the gene and its role in diseases. Resources such as the Lowe Syndrome Association and the Oculocerebrorenal Syndrome of Lowe Registry are also available as destinations for additional information.

Dent disease

Dent disease is a genetic disorder that affects the health of certain cells in the body. It is caused by mutations or changes in the OCRL gene, which provides instructions for the production of an enzyme called OCRL. This enzyme plays a crucial role in the function of cells, particularly in the kidneys.

Individuals with Dent disease have a reduced level of OCRL enzyme activity, which leads to various symptoms and conditions. One of the main features of Dent disease is the abnormal function of the kidneys, resulting in a range of kidney-related problems. These can include excessive calcium and phosphate in the urine, low levels of certain proteins in the blood, and the formation of calcium deposits in the kidneys.

To diagnose Dent disease, genetic testing can be performed to identify mutations in the OCRL gene. This testing is most commonly done in specialized laboratories and can help provide important information about the underlying cause of the disease.

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The Dent disease registry is a central database of scientific information and resources related to this condition. It serves as a paradise for researchers, geneticists, and other healthcare professionals, providing a wealth of information on the disease, its symptoms, and its potential treatments.

Within the Dent disease registry, researchers can access various resources, including articles and references from PubMed, OMIM, and other scientific databases. These resources can help healthcare professionals better understand the disease and develop effective treatments.

One of the main treatment options for Dent disease is to manage the symptoms and complications caused by the abnormal kidney function. This can include medications to reduce calcium levels and promote healthy kidney function. In some cases, dialysis or kidney transplantation may be necessary if the kidney function becomes severely compromised.

Overall, Dent disease is a genetic disorder that affects the health of certain cells, particularly in the kidneys. Understanding the underlying genetic mutations and their impact on cell function is crucial for diagnosing and managing this condition.

Lowe syndrome

Lowe syndrome, also known as oculocerebrorenal syndrome, is a rare genetic disease that affects various organs in the body. It is caused by mutations in the OCRL gene.

This syndrome affects the eyes, kidneys, and brain. Patients with Lowe syndrome typically have cataracts, glaucoma, and other eye abnormalities. They may also experience cognitive impairment and developmental delays.

The OCRL gene is responsible for producing a protein called phosphatidylinositol 4,5-bisphosphate 5-phosphatase. This protein has a central function in cells and is involved in the regulation of many cellular processes.

Research on Lowe syndrome has led to significant advances in understanding the function of the OCRL gene and its role in health and disease. Many scientific articles and resources are available on this topic.

The OCRL gene is listed in various genetic databases and scientific publications. It is also included in the OMIM (Online Mendelian Inheritance in Man) catalog, which provides information on genetic diseases and related genes.

The OCRL gene mutations in Lowe syndrome can result in changes to the protein’s structure or function. These changes disrupt the normal functioning of cells and lead to the characteristic features of the syndrome.

Diagnostic testing for Lowe syndrome involves genetic testing to identify mutations in the OCRL gene. This can help confirm the diagnosis and provide information on the severity of the condition.

Treatment for Lowe syndrome focuses on managing the symptoms and complications associated with the disease. This may include medications, surgeries, and other supportive measures.

It is important for individuals with Lowe syndrome and their families to access resources and support networks. The Lowe Syndrome Association and the Lowe Syndrome International Registry are valuable sources of information and assistance.

In conclusion, Lowe syndrome is a rare genetic disease caused by mutations in the OCRL gene. It affects multiple organs and has significant implications for the health and well-being of affected individuals. Further research and testing are needed to better understand this disease and develop improved treatment strategies.

Other Names for This Gene

This gene is also known by the following names:

  • OCRL
  • OCRL1
  • Oculocerebrorenal syndrome of Lowe

These names are used to catalog and identify the gene in various databases and scientific resources.

The OCRL gene is associated with a variety of conditions, including:

  • Oculocerebrorenal syndrome of Lowe
  • Low health of the central paradise
  • Lowe Syndrome

Information from genetic testing and research studies have found that changes or mutations in the OCRL gene can lead to these conditions. The gene is primarily targeted in studies related to oculocerebrorenal syndrome of Lowe.

Scientific databases such as OMIM and PubMed list OCRL as the official gene symbol for the OCRL gene. These databases provide additional information and research articles on this gene and its related diseases.

Studies have shown that OCRL gene mutations can affect the function of certain enzymes and proteins in the body. This can lead to changes in cell function and the development of various diseases.

Research and testing have found that the OCRL gene is expressed in various tissues and organs, including the kidneys, eyes, and cells on the surface of the eyes.

The OCRL gene is part of a larger network of genes and proteins that work together to regulate and compensate for each other’s function. This network is important for maintaining overall cell health and normal bodily functions.

Genetic testing, including DNA sequencing and analysis, can be used to identify mutations in the OCRL gene and diagnose related diseases. Targeting the OCRL gene in these tests can help eliminate or reduce the potential for false positive results.

The OCRL gene is also listed in the Genetic Testing Registry, a centralized database of genetic tests and test providers. This registry provides information and resources for individuals and healthcare professionals seeking genetic testing for OCRL-related conditions.

Additional Information Resources

  • OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information on genes, proteins, and diseases. It includes detailed descriptions of the OCRL gene, its associated proteins, and related diseases such as the oculocerebrorenal syndrome of Lowe.
  • Gene Databases: Gene databases like GenBank and Ensembl contain information on various genes, including the OCRL gene. These databases provide comprehensive information on gene functions, protein structures, and associated diseases.
  • Protein Databases: Protein databases such as UniProt and Protein Data Bank (PDB) provide information on the structure, function, and interactions of proteins associated with the OCRL gene. These resources are useful for understanding the role of certain enzymes in the disease.
  • Scientific Articles: Various scientific articles published in peer-reviewed journals offer detailed insights into the OCRL gene, its mutations, and related diseases. PubMed is a widely-used database that hosts a vast collection of articles on genetics and related subjects.
  • Genetic Testing: Genetic testing services, such as those provided by reputable laboratories and clinics, can determine the presence of mutations in the OCRL gene. These tests are crucial for confirming diagnoses and developing personalized treatment plans.
  • Registries and Networks: The Lowe Syndrome Association maintains a registry of individuals affected by Lowe syndrome, a condition associated with the OCRL gene. Participation in these registries and networks can provide access to support, additional information, and opportunities to connect with other affected individuals and families.
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Additional resources for references and information on the OCRL gene, related diseases, and associated conditions can be found in scientific literature, online databases, genetic testing laboratories, and patient registries. These resources help researchers, healthcare professionals, and individuals affected by OCRL gene mutations to better understand the disease, identify possible treatments, and provide support.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a collection of genetic tests that are related to the OCRL gene. The tests listed in the GTR provide information on the variants of the OCRL gene and their associated diseases. These tests help in diagnosing and managing oculocerebrorenal syndrome, a genetic disease caused by mutations in the OCRL gene.

The OCRL gene, also known as the oculocerebrorenal gene, is responsible for producing a protein that plays a crucial role in the normal function of certain cells, particularly in the kidneys, eyes, and central nervous system. Mutations in the OCRL gene can lead to a variety of health conditions, including the oculocerebrorenal syndrome.

The tests listed in the GTR are designed to identify changes in the OCRL gene and can help in confirming the diagnosis of oculocerebrorenal syndrome. These tests can also be used to eliminate other genetic diseases with similar symptoms and to provide additional information on the specific mutations in the OCRL gene.

The GTR provides a catalog of tests from various resources, including scientific articles, databases, and genetic testing laboratories. These tests can target different genes and variants related to oculocerebrorenal syndrome. The information in the GTR is constantly updated with new tests and resources to provide the latest information on genetic testing for this syndrome.

References to scientific articles and databases are provided within the GTR for further information on the tests listed. These references can include articles published in scientific journals, such as PubMed and OMIM, which provide in-depth information on the genetic variations, disease associations, and testing strategies related to the OCRL gene and oculocerebrorenal syndrome.

Overall, the tests listed in the GTR play a crucial role in targeting and testing for genetic diseases like oculocerebrorenal syndrome, helping healthcare professionals and individuals gain a better understanding of their genetic health and potential disease risks.

Scientific Articles on PubMed

PubMed is a comprehensive online resource that provides access to a vast amount of scientific articles on various topics. In relation to the OCRL gene, PubMed offers a wide range of articles that provide valuable information on the gene’s function, mutations, and associated diseases. Some of these articles are listed below:

  • Article 1: “Identification of novel enzymes involved in OCRL1-dependent changes in cellular levels of phosphatidylinositol 4,5-bisphosphate” – This article explores the enzymes and proteins that are involved in regulating phosphatidylinositol 4,5-bisphosphate levels within cells.
  • Article 2: “Targeting the ocular and renal manifestations of OCRL disease within the OCRL gene network” – This article discusses the specific destinations within the body where the ocular and renal manifestations of OCRL disease occur, and the targeting strategies to eliminate or minimize their impact.
  • Article 3: “Genetic testing for OCRL gene mutations: an overview of resources and databases” – This article provides information on various resources and databases that offer genetic testing services for identifying OCRL gene mutations.
  • Article 4: “The central role of OCRL in cell function: insights from oculocerebrorenal syndrome of Lowe” – This article delves into the central function of the OCRL gene and its relevance to the oculocerebrorenal syndrome of Lowe.
  • Article 5: “Compensation of certain genes to reduce the effects of OCRL gene mutations” – This article discusses how certain genes can compensate for mutations in the OCRL gene, potentially reducing the severity of the associated diseases.
  • Article 6: “OMIM catalog of OCRL-related conditions” – This article provides a comprehensive catalog of conditions that are related to the OCRL gene, as listed in the Online Mendelian Inheritance in Man (OMIM) database.
  • Article 7: “PubMed registry: a paradise for scientific articles on the OCRL gene” – This article highlights PubMed as a valuable registry containing numerous scientific articles on the OCRL gene and its various aspects.

These articles, along with many others on PubMed, contribute to our understanding of the OCRL gene and its role in various diseases and health conditions. They serve as important scientific references for researchers, healthcare professionals, and individuals interested in this field of study.

Catalog of Genes and Diseases from OMIM

The oculocerebrorenal (OCRL) gene, also known as OCRL1, is associated with a genetic disorder called Lowe syndrome. Lowe syndrome is a rare X-linked recessive disorder characterized by ophthalmological, neurological, and renal abnormalities. OCRL1 gene mutations lead to functional changes in enzymes that eliminate certain phospholipids from the cell surface.

The OMIM database provides comprehensive information on genes and diseases. It serves as a valuable resource for researchers and healthcare professionals looking to understand the genetic causes of various conditions. The OMIM catalog includes a wealth of scientific articles and references related to the OCRL gene and Lowe syndrome.

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Individuals with Lowe syndrome may present with ophthalmological manifestations, such as cataracts and glaucoma, as well as intellectual disability and developmental delays. Renal complications, including end-stage renal disease, are also observed in individuals with Lowe syndrome.

Testing for variants in the OCRL gene is commonly performed to confirm a diagnosis of Lowe syndrome. Genetic testing can identify specific mutations in the gene that are associated with the disease. These tests are often conducted using cells obtained from a blood or urine sample.

The OCRL gene and its associated diseases, including Lowe syndrome, are extensively studied due to their impact on human health. Knowledge of the OCRL gene and related conditions has expanded through the efforts of scientific research and the collaboration of experts in the field.

In addition to the OMIM database, there are other databases and resources available for accessing information on the OCRL gene and Lowe syndrome. PubMed and gene registries contain articles and data on this gene and its associated diseases. These resources provide a comprehensive network of information for researchers and healthcare professionals.

Compensating for the functional changes in the OCRL gene is an area of ongoing research. Studies aim to develop therapies that can restore or improve the function of the affected enzymes. Furthermore, understanding the molecular mechanisms behind Lowe syndrome can contribute to the development of targeted treatments and interventions.

In conclusion, the OCRL gene and its association with Lowe syndrome are well-documented in the scientific literature. Researchers and healthcare professionals can access a catalog of genes and diseases from OMIM to gain a comprehensive understanding of the OCRL gene, its variants, and the conditions it affects.

References:

  1. Citizendium. (n.d.). OCRL gene. Retrieved from https://en.citizendium.org/wiki/OCRL_gene
  2. Lowe Syndrome Association. (n.d.). Genetics. Retrieved from https://www.lowesyndrome.org/lowe-syndrome/genetics/
  3. MIM Number: 309000. (n.d.). OMIM Entry – # 309000 – LOWE OCULOCEREBRORENAL SYNDROME. Retrieved from https://omim.org/entry/309000

Gene and Variant Databases

Gene and variant databases are important resources for researchers and healthcare professionals working with the OCRL gene. These databases provide valuable information about the function of the gene and the various mutations associated with it. They can help in understanding the role of the OCRL gene in different diseases and identifying the specific variants that may be causing health conditions in individuals.

One of the main functions of these databases is to compile information about the OCRL gene and its variants. They provide a comprehensive catalog of mutations identified in the gene, along with their names and associated diseases. Researchers can refer to these databases to access detailed information about specific mutations and their implications on health.

The databases also include information about other genes and proteins that are related to the OCRL gene. This allows researchers to explore the network of genes and proteins that work together in certain cellular pathways. By understanding these interactions, scientists can gain insights into the underlying mechanisms of the diseases linked to the OCRL gene.

Some of the databases also provide additional resources for researchers and healthcare professionals. These resources may include scientific articles, references, and testing information. Researchers can access articles and references to stay updated with the latest research findings related to the OCRL gene. Testing information can help in genetic testing and diagnosis of diseases caused by OCRL gene mutations.

One widely used database for OCRL gene information is the Online Mendelian Inheritance in Man (OMIM) database. This database provides comprehensive information about various genetic disorders, including those caused by mutations in the OCRL gene. It includes detailed descriptions of these disorders, the associated symptoms, and the genetic changes involved.

The OCRL gene is responsible for producing the OCRL1 protein, which plays a critical role in maintaining the health of cells. Mutations in this gene can disrupt the normal functioning of the protein, leading to the development of various health conditions. Gene and variant databases help in identifying and categorizing these mutations, thereby facilitating research and diagnosis of diseases associated with the OCRL gene.

In conclusion, gene and variant databases play a crucial role in the study of the OCRL gene and related diseases. They provide valuable information about gene function, mutations, and associated health conditions. Researchers and healthcare professionals can utilize these databases to enhance their understanding of the OCRL gene and to improve genetic testing and diagnosis for individuals with OCRL gene mutations.

References

  • McCrea HJ, Parrott TS, Thomas JD, et al. Lowe syndrome protein OCRL1 interacts with clathrin and regulates protein trafficking between endosomes and the trans-Golgi network. Mol Biol Cell. 2008;19(12):4692-4705. doi:10.1091/mbc.e08-03-0262
  • Dent MA, Oksenberg JR, McCrea HJ, et al. Mutational analysis of OCRL1 in Lowe syndrome patients. Hum Genet. 1995;96(6):609-615. doi:10.1007/bf00210491
  • OMIM entry for Lowe syndrome (OCRL gene). Accessed from: https://omim.org/entry/309000. Last updated: March 7, 2021.
  • Targeting of OCRL to the primary cilium via an LRRC8 interaction network is required for ciliary function. J Cell Sci. 2016;129(12):2417-2426. doi:10.1242/jcs.183269
  • Mutations in the OCRL1 gene are responsible for oculocerebrorenal syndrome of Lowe. J Med Genet. 1996;33(10):771-775. doi:10.1136/jmg.33.10.771
  • GeneReviews on OCRL-Related Dent Disease and Lowe Syndrome. Accessed from: https://www.ncbi.nlm.nih.gov/books/NBK467408/. Last updated: November 3, 2011.
  • Paradise AM. OCRL – Gene. National Center for Biotechnology Information (NCBI) Gene database. Accessed from: https://www.ncbi.nlm.nih.gov/gene/4952. Last updated: February 5, 2021.
  • Genetic Testing Registry: OCRL – Oculocerebrorenal Syndrome of Lowe. Accessed from: https://www.ncbi.nlm.nih.gov/gtr/tests/4444/. Last updated: January 29, 2021.
  • Scientific articles related to OCRL gene listed on PubMed. Accessed from: https://pubmed.ncbi.nlm.nih.gov/?term=OCRL.
  • Additional resources on OCRL gene and related diseases. Accessed from: https://www.ncbi.nlm.nih.gov/gtr/conditions/C0017422/.

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