The DOLK gene is one of the many genes cataloged in various databases such as PubMed and OMIM. It codes for the production of the enzyme Dolichol Kinase, which is involved in the process of protein glycosylation.
Protein glycosylation is a crucial process for the correct functioning of proteins, and any changes or deficiencies in the DOLK gene can lead to disorders related to glycosylation, such as DOLK-congenital disorders of glycosylation (DOLK-CDG). Patients with DOLK-CDG may present with a variety of symptoms including intellectual disability, seizures, and other health issues.
The DOLK gene is known to have several genetic variants listed in scientific publications and genetic testing databases. These databases provide additional information on the specific variants and their association with different diseases. The DOLK gene variant registry is an important resource for researchers and healthcare professionals who are studying and testing for genetic conditions related to the DOLK gene.
Research articles and references on the DOLK gene can be found in scientific journals, providing valuable insights into its function, role in disease development, and potential therapeutic targets. Understanding the genetic basis of DOLK-related disorders can contribute to the development of better diagnostic tests, treatment options, and improve patient care.
Health Conditions Related to Genetic Changes
Genetic changes in the DOLK gene can lead to various health conditions and disorders. The DOLK gene provides instructions for making a protein that is involved in the process of adding sugar chains (glycosylation) to other proteins. These sugar chains play important roles in cell signaling and communication.
Changes in the DOLK gene can result in reduced or altered glycosylation of proteins, leading to a condition called DOLK-CDG (Congenital Disorders of Glycosylation). DOLK-CDG is a rare genetic disorder that affects multiple systems in the body.
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Health conditions related to genetic changes in the DOLK gene include:
- DOLK-CDG: This disorder can cause a wide range of symptoms, including developmental delay, intellectual disability, seizures, muscle stiffness, and weak muscle tone. It can also affect the heart, liver, and other organs.
Testing for genetic changes in the DOLK gene can be done through genetic testing. This can help in diagnosing DOLK-CDG and determining the specific genetic variant responsible for the condition. Genetic testing may also be recommended for individuals with a family history of DOLK-CDG or for those who exhibit symptoms suggestive of the disorder.
To learn more about DOLK-CDG and genetic changes in the DOLK gene, you can explore the following resources:
- Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on DOLK-CDG and related conditions.
- PubMed: PubMed is a database of biomedical literature. You can find research articles and studies related to DOLK-CDG and genetic changes in the DOLK gene on PubMed.
- Genetic Testing Resources: Various genetic testing laboratories and clinics offer tests for DOLK-CDG and other genetic conditions. You can search online for genetic testing resources in your area.
- Registry and Support Organizations: There may be registries and support organizations dedicated to DOLK-CDG and related conditions. These resources can provide additional information and support for individuals and families affected by these disorders.
DOLK-congenital disorder of glycosylation
The DOLK-congenital disorder of glycosylation, also known as DOLK-CDG, is a genetic condition that affects the glycosylation process in the body. Glycosylation is the attachment of sugar molecules to proteins, which is essential for their proper function.
Individuals with DOLK-CDG have mutations in the DOLK gene, which provides instructions for making a protein called DOLK. This protein is involved in the production of dolichol, a molecule that is necessary for the proper glycosylation of proteins.
Reduced or altered function of the DOLK protein leads to abnormal glycosylation, which can result in a wide range of symptoms and health conditions. The severity of the disorder can vary, with some individuals experiencing mild symptoms and others having more severe complications.
There is a registry for DOLK-CDG that collects and maintains information about individuals with this condition. This registry helps researchers and healthcare professionals better understand the disorder and develop appropriate treatments and interventions.
Additional information about DOLK-CDG can be found in scientific articles and databases such as PubMed and OMIM. These resources provide detailed information on the genetic changes associated with the disorder, related symptoms and conditions, diagnostic testing options, and available treatments.
Genetic testing can be done to confirm a diagnosis of DOLK-CDG. This testing involves analyzing the DOLK gene for any changes or variants that may be causing the disorder. Results from genetic testing can help guide medical management and provide important information for individuals and their families.
It’s important to note that DOLK-CDG is just one of many congenital disorders of glycosylation. There are several other genetic conditions that can affect the glycosylation process and result in similar symptoms. These conditions may involve mutations in different genes or proteins.
For individuals and families affected by DOLK-CDG, there are resources available to provide support and information. This includes patient advocacy groups, online communities, and healthcare professionals with expertise in rare genetic disorders.
References and additional resources:
- OMIM: Online Mendelian Inheritance in Man. Available at: https://omim.org
- PubMed: National Library of Medicine. Available at: https://pubmed.ncbi.nlm.nih.gov
| Gene | Protein | Condition |
|---|---|---|
| DOLK | DOLK protein | DOLK-congenital disorder of glycosylation |
| Other genes | Other proteins | Other congenital disorders of glycosylation |
Other Names for This Gene
Other names for the DOLK gene include:
- DOLK-Congenital disorder of glycosylation
- DOLK-CDG
- Protein DOLK
This gene is also known by its full name, Dolichyl phosphate beta-glucosyltransferase, which refers to the protein it encodes.
Changes (variants) in the DOLK gene have been associated with various conditions and diseases. These changes can affect the glycosylation process, which is important for proper protein function and cell signaling.
Information on the DOLK gene can be found in genetic databases such as OMIM (Online Mendelian Inheritance in Man) and other resources. Genetic testing can be conducted to detect variants in this gene and related proteins associated with specific disorders.
Scientific articles and references related to the DOLK gene and its variants can be found in PubMed and other scientific databases.
In addition to genetic testing, there are registries and catalogs for specific diseases or conditions caused by DOLK gene variants. These resources provide additional information and support for individuals and families affected by these genetic disorders.
| Resource | Description |
|---|---|
| OMIM | Online Mendelian Inheritance in Man – a comprehensive database of human genes and genetic disorders |
| PubMed | A database of scientific articles and references |
| Genetic Testing Registry | A database of genetic tests and laboratories offering them |
| DOLK-CDG Research Network | A network focused on research and support for individuals with DOLK-CDG |
Further research and studies on the DOLK gene and its associated disorders continue to provide valuable insights into the role of this gene in human health.
Additional Information Resources
This section provides additional resources related to the DOLK gene, including articles, databases, and genetic testing resources.
Articles:
- OMIM – The Online Mendelian Inheritance in Man database provides information on diseases associated with the DOLK gene, including DOLK-CDG. It includes scientific references and known genetic changes associated with the condition.
Diseases:
- OMIM – DOLK-CDG, also known as DOLK-congenital disorder of glycosylation, is a genetic disorder caused by changes in the DOLK gene. The OMIM database provides detailed information on this condition.
Databases and Genetic Testing:
- OMIM – In addition to information on diseases, OMIM also includes genetic testing information for the DOLK gene. This can help healthcare professionals and researchers identify genetic variants associated with DOLK-related conditions.
- GeneTests – This online catalog of genetic tests provides further information on testing options for the DOLK gene. It includes resources for healthcare professionals and patients seeking genetic testing.
Other Resources:
- PubMed – Searching for the term “DOLK gene” in PubMed, a database of scientific articles, can provide additional information on research related to this gene and its functions.
- Genetic and Rare Diseases Information Center (GARD) – GARD provides information on genetic conditions, including those related to the DOLK gene. It offers resources for patients and their families seeking information on specific conditions.
Proteins and Variants:
- UniProt – This database provides detailed information on the protein products of genes, including the DOLK protein. It also catalogues variants of the protein that may be associated with different conditions.
Related Conditions:
- OMIM – In addition to DOLK-CDG, the OMIM database lists other conditions that may be related to changes in the DOLK gene. This can help researchers and healthcare professionals explore the broader impact of DOLK gene variants.
These resources can be valuable for healthcare professionals, researchers, and individuals seeking information on the DOLK gene, associated conditions, and genetic testing.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a comprehensive resource that provides information on genetic tests for a wide range of genetic disorders and conditions. The GTR is a valuable tool for healthcare providers, researchers, and individuals interested in genetic testing and related information.
The GTR provides a catalog of genetic tests that are available for various genes, including the DOLK gene. The DOLK gene is associated with the DOLK-congenital disorder of glycosylation (CDG), a rare genetic disorder that affects the glycosylation process, leading to a range of symptoms and health complications.
Genetic tests listed in the GTR for the DOLK gene can identify changes or variants in the gene that are known to be associated with the DOLK-CDG disorder. These tests can help diagnose individuals with the disorder and provide important information for their healthcare management.
The GTR provides links to additional resources and references related to the DOLK gene and DOLK-CDG disorder. These resources include scientific articles, databases like PubMed and OMIM, and other reputable sources of information on genetic testing and related topics.
Healthcare providers and researchers can utilize the GTR to access up-to-date information on genetic testing for the DOLK gene and other genes associated with glycosylation disorders. The GTR also offers information on available testing laboratories and detailed descriptions of each genetic test listed.
| Tests Listed in the Genetic Testing Registry for DOLK Gene: | References and Additional Resources: |
|---|---|
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By utilizing the GTR and the tests listed for the DOLK gene, healthcare providers and researchers can gain valuable insights into the genetic basis of DOLK-CDG and potentially develop better management and treatment strategies for affected individuals.
Scientific Articles on PubMed
PubMed is a valuable resource for finding scientific articles on various topics related to health and genetics. It provides information on proteins, genes, and other genetic disorders, including DOLK gene-related conditions.
DOLK gene is known to be associated with the disorder called DOLK-CDG (Congenital disorder of glycosylation). This genetic disorder is characterized by reduced protein glycosylation, which can lead to various health conditions.
Testing for DOLK gene changes can be done through genetic tests. PubMed provides a catalog of scientific articles that discuss the different testing methods and resources available for DOLK-CDG and other genetic conditions.
Additional information on DOLK gene and related diseases can be found in scientific articles listed on PubMed. These articles provide detailed information on the gene, its function, and the known health conditions associated with changes in the gene.
PubMed also includes references to genetic databases and registries that provide further information on DOLK gene variants and associated diseases. This can be helpful for researchers and healthcare professionals seeking to learn more about this genetic disorder.
OMIM is one such resource mentioned on PubMed, which provides comprehensive information on genetic disorders, including DOLK-CDG. This database includes information on the gene, its associated diseases, and the genetic changes known to cause these conditions.
In conclusion, PubMed is a valuable source of scientific articles on DOLK gene, DOLK-CDG, and related genetic conditions. It provides information on the genes, proteins, and testing methods associated with this disorder, as well as references to other resources and databases for further research.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM provides information on genetic changes, disorders, and diseases associated with the DOLK gene. DOLK, also known as dolichol kinase, plays a crucial role in protein glycosylation. Variants in the DOLK gene can lead to a genetic disorder known as DOLK-congenital disorder of glycosylation (DOLK-CDG).
The OMIM database is a comprehensive resource that lists genetic disorders and genes associated with these conditions. It provides detailed information on the genetic changes, clinical features, and available testing for each disorder. The DOLK gene and DOLK-CDG are included in this catalog, along with other related genes and diseases.
In addition to OMIM, there are other databases and scientific resources available for researching the DOLK gene and related conditions. These resources include references from PubMed, articles on protein glycosylation, and health registry information.
The Catalog of Genes and Diseases from OMIM is a valuable tool for researchers and healthcare professionals involved in the study and management of genetic diseases. It provides a centralized source of information on the genetic causes, clinical manifestations, and available testing for a wide range of genetic disorders.
- OMIM provides information on genetic changes, disorders, and diseases associated with the DOLK gene.
- DOLK is also known as dolichol kinase and is involved in protein glycosylation.
- Variants in the DOLK gene can cause a genetic disorder called DOLK-congenital disorder of glycosylation (DOLK-CDG).
- The OMIM database lists the DOLK gene and DOLK-CDG, along with other related genes and diseases.
- Other scientific resources and databases, such as PubMed, provide additional information on the DOLK gene and related conditions.
- The Catalog of Genes and Diseases from OMIM is a valuable tool for researchers and healthcare professionals.
Gene and Variant Databases
The DOLK gene, also known as DOLK-Congenital Disorders of Glycosylation (DOLK-CDG), is associated with a disorder characterized by a reduced protein glycosylation. To understand more about this gene and its associated variants, several gene and variant databases can be explored.
1. DOLK-CDG Genetic Resources
- Catalog of Human Genes and Genetic Disorders: Provides information on the DOLK gene and related genetic conditions.
- Registry of DOLK-CDG Variants: Lists known variants and their associated changes in the DOLK gene.
- DOLK Gene Testing: Offers genetic testing options for individuals with suspected DOLK-CDG.
2. Other Gene and Variant Databases
- OMIM (Online Mendelian Inheritance in Man): Contains comprehensive information on genetic disorders, including DOLK-CDG.
- PubMed: Provides additional articles and references related to the DOLK gene and its variants.
These databases and resources are valuable tools for researchers, healthcare professionals, and individuals seeking information on the DOLK gene and its associated disorders. They offer a wealth of information on genetic conditions, genes, variants, and testing options.
References
- OMIM – Online Mendelian Inheritance in Man: The DOLK gene. Available at https://omim.org/entry/610746
- OMIM – Online Mendelian Inheritance in Man: DOLK-CDG. Available at https://omim.org/entry/610768
- PubMed: Articles on DOLK gene. Available at https://pubmed.ncbi.nlm.nih.gov/?term=DOLK+gene
- Protein Data Bank: DOLK protein information. Available at https://www.rcsb.org/structure/6L0V
- DOLK Congenital Disorders of Glycosylation (CDG) Registry. Available at https://dolk-cdg.org/
- GeneReviews: DOLK-CDG. Available at https://www.ncbi.nlm.nih.gov/books/NBK5181/
- Variant Catalog: DOLK. Available at https://www.ncbi.nlm.nih.gov/clinvar/?term=DOLK[gene]
- Genetic Testing Registry: DOLK. Available at https://www.ncbi.nlm.nih.gov/gtr/genes/17646/
- HGVS: DOLK gene variant nomenclature. Available at https://varnomen.hgvs.org/recommendations/protein/DOLK/