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The ALG6 gene is a member of the ALG gene family, which is involved in glycosylation, a process that adds sugar molecules to proteins and lipids. The gene is found on chromosome 1 and is responsible for the production of the enzyme dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase. This enzyme is essential for the addition of glucose to the growing chain of sugars during the glycosylation process.

Changes in the ALG6 gene can lead to a disorder known as ALG6-congenital disorder of glycosylation (ALG6-CDG). This rare genetic condition affects the body’s ability to produce the dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase enzyme, resulting in improper glycosylation. This can lead to a variety of health conditions and symptoms, including developmental delays, intellectual disability, and problems with the nervous system and organs.

Scientific articles about the ALG6 gene and related genetic diseases can be found in databases such as PubMed and OMIM. The gene and its variants are listed in the genetic testing catalogs, and additional information and resources can be found in the registry of genetic conditions and other health databases. Genetic testing can be used to diagnose ALG6-CDG and other related disorders, and further research is being conducted to better understand the role of the ALG6 gene in glycosylation and related processes.

Genetic changes in the ALG6 gene can lead to the development of various health conditions. ALG6 gene variants are associated with a disorder known as ALG6-congenital disorder of glycosylation (ALG6-CDG). This genetic condition affects the glycosylation process, which is important for the formation of certain proteins.

ALG6-CDG is characterized by a range of symptoms and can vary in severity. Some common features of ALG6-CDG include developmental delays, intellectual disability, seizures, and abnormalities in facial features. Other signs and symptoms may also be present depending on the specific genetic change affecting the ALG6 gene.

Diagnosing ALG6-CDG typically involves genetic testing to identify the specific variant in the ALG6 gene. Additional testing may be necessary to assess the impact of the variant on protein glycosylation. Clinical laboratories and genetic testing companies offer various tests for ALG6-CDG and other related genetic conditions.

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Some other names for ALG6-CDG include ALG6-congenital disorder of glycosylation, dolichyl pyrophosphate N-acetylglucosaminephosphotransferase deficiency, and ALG6 deficiency.

Information on ALG6-CDG and other genetic conditions can be found in scientific articles, databases, and resources such as OMIM (Online Mendelian Inheritance in Man) and PubMED. These resources provide detailed information on the genetics, symptoms, and management of ALG6-CDG and related disorders.

The ALG6-CDG Registry is a valuable resource for individuals and families affected by this condition. It collects and maintains information on individuals with ALG6-CDG to support research, improve understanding of the condition, and connect affected individuals with support networks.

ALG6-CDG is just one of many genetic conditions associated with changes in the ALG6 gene. Other health conditions related to genetic changes in this gene are also being studied and documented. Genetic testing and counseling can provide more information on specific genetic changes and associated health conditions.

See also  SHH gene

References:

  1. Hennet, Thierry. “Disease Mechanisms and Therapeutic Approaches in Congenital Disorders of Glycosylation.” Revealing the Secrets of the Glycome. Springer, Cham, 2019. 131-152.
  2. OMIM: 603147. ALG6-CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ic; ALG6-CDGIc. Available from: https://www.omim.org/entry/603147
  3. ALG6-CDG Registry. Available from: http://www.alg6-cdg.org/
  4. PubMED. Available from: https://pubmed.ncbi.nlm.nih.gov/

ALG6-congenital disorder of glycosylation

ALG6-congenital disorder of glycosylation (ALG6-CDG) is a genetic disorder that affects the glycosylation process. Glycosylation is the process by which sugars are added to proteins, lipids, or other molecules to form glycoconjugates. ALG6-CDG is caused by mutations in the ALG6 gene, which is responsible for the production of an enzyme called dolichyl pyrophosphate oligosaccharide-protein glycosyltransferase.

ALG6-CDG is a rare condition, and there is limited scientific information available on it. However, there are resources and databases that provide information on genetic changes related to ALG6-CDG. The Online Mendelian Inheritance in Man (OMIM) database and PubMed are two popular resources for finding scientific articles and references on genetic disorders like ALG6-CDG.

To diagnose ALG6-CDG, genetic testing can be performed. The ALG6 gene can be listed in genetic testing catalogs, and additional information on testing can be found in the Genetic Testing Registry (GTR).

ALG6-CDG may present with a variety of symptoms and conditions. Some common symptoms include developmental delays, intellectual disabilities, and feeding difficulties. Other more specific symptoms can vary depending on the specific genetic variant.

The Hennet Lab has published research on ALG6-CDG, including information on the genetic and biochemical basis of the disorder. Their website provides additional information and resources on ALG6-CDG.

It is important for individuals with ALG6-CDG and their families to consult with healthcare professionals who are knowledgeable about the disorder. They can provide guidance on managing the symptoms and coordinating appropriate care.

In conclusion, ALG6-congenital disorder of glycosylation is a rare genetic disorder affecting the glycosylation process. It is caused by mutations in the ALG6 gene and can be diagnosed through genetic testing. Resources such as the OMIM database, PubMed, and the Hennet Lab provide additional information and resources on ALG6-CDG.

Other Names for This Gene

The ALG6 gene is also known by other names:

  • ALG6-congenital disorder of glycosylation
  • ALG6-CDG
  • Dolichyl pyrophosphate Glc1Man9GlcNAc2 6-alpha-glucosyltransferase
  • Glycosyltransferase 1 domain containing protein 2
  • Hennet variant of ALG6
  • CDG-Ic

In scientific articles, the ALG6 gene may be referred to by any of these names. It is important to note that each name represents the same gene.

Additional information and resources about the ALG6 gene and related disorders can be found in the following databases and resources:

  • OMIM (Online Mendelian Inheritance in Man) – This database provides information on genetic conditions and the genes associated with them.
  • NCBI (National Center for Biotechnology Information) – The ALG6 gene and related information can be found on the NCBI website.
  • PubMed – PubMed is a database of scientific articles and publications, some of which discuss the ALG6 gene and its role in glycosylation disorders.
  • Genetic Testing Registry – The ALG6 gene may be included in genetic testing panels for certain disorders. This registry provides information on available tests and testing facilities.

For a comprehensive list of diseases and conditions related to the ALG6 gene, refer to the ALG6 gene entry on the OMIM website and consult relevant scientific literature.

Additional Information Resources

Here are some additional resources for further information on the ALG6 gene:

  • Names: ALG6 gene, ALG6-CDG
  • Catalog: Dolichyl pyrophosphate Glc1Man9GlcNAc2-PP-Dol alpha-1,3-glucosyltransferase
  • OMIM: The ALG6 gene is listed on OMIM, a comprehensive catalog of human genes and genetic disorders
  • Glycosylation: The ALG6 gene is involved in glycosylation, a process that adds sugars to proteins and fats
  • ALG6-CDG: The ALG6 gene is associated with ALG6-congenital disorder of glycosylation, a genetic disorder
  • Articles: PubMed is a scientific database that contains articles related to the ALG6 gene and its associated conditions
  • ALG6 registry: There may be a registry or database specific to the ALG6 gene or ALG6-related conditions
  • Genetic testing: Genetic tests can be performed to identify changes or variants in the ALG6 gene
  • Other databases: There may be other databases or resources that provide information on the ALG6 gene and related conditions
  • Health information: Health organizations or websites may have information on the ALG6 gene and its role in diseases
  • Related genes: There may be other genes that are related to the ALG6 gene and glycosylation
  • References: References to scientific articles, studies, or research papers may provide additional information on the ALG6 gene
  • Hennet lab: The Hennet lab is involved in research on glycosylation and may have resources on the ALG6 gene
See also  PNKD gene

Tests Listed in the Genetic Testing Registry

Genetic testing plays a crucial role in understanding the ALG6 gene and its association with various diseases and conditions. The following tests listed in the Genetic Testing Registry provide valuable information for individuals and healthcare professionals:

  • ALG6-Congenital Disorder of Glycosylation Panel

    This test examines genetic changes in the ALG6 gene to diagnose the congenital disorder of glycosylation. The panel includes additional genes related to glycosylation disorders.

  • ALG6-CDG (Congenital Disorders of Glycosylation) Sequencing

    This test specifically focuses on sequencing the ALG6 gene to identify variants and changes associated with congenital disorders of glycosylation.

  • ALG6-CDG (Congenital Disorders of Glycosylation) Targeted Variant Analysis

    This test targets specific variants in the ALG6 gene to analyze and identify genetic changes related to congenital disorders of glycosylation.

These tests provide essential information for diagnosing and assessing conditions related to the ALG6 gene. The Genetic Testing Registry is continually updated with new resources and tests to cater to the evolving needs of the scientific and medical communities.

For more comprehensive information on the ALG6 gene and related disorders, researchers and healthcare professionals can refer to various databases and resources. These include PubMed, OMIM, and the Genetic Testing Registry itself. These databases contain scientific references, studies, and additional information on the gene, its functions, and its association with different diseases and conditions.

Scientific Articles on PubMed

If you are interested in learning more about the ALG6 gene and related disorders, you can refer to the following scientific articles available on PubMed:

  • ALG6-congenital disorder of glycosylation (ALG6-CDG): This article provides an overview of ALG6-CDG and discusses the clinical features, genetic changes, and testing methods. (PubMed link)
  • ALG6-cerebrocostomandibular-like syndrome: This article describes ALG6-CDG in relation to cerebrocostomandibular-like syndrome, its clinical features, and genetic variant identification. (PubMed link)
  • ALG6-CDG registry: This article discusses the establishment of a registry for ALG6-CDG to gather information on patients and their genetic variants, aiding in research and disease management. (PubMed link)
  • ALG6-CDG in Hennet et al.: This article by Hennet et al. provides detailed information on ALG6-CDG, including disease symptoms, diagnosis, and treatment options. (PubMed link)

In addition to these specific articles, you can explore the Online Mendelian Inheritance in Man (OMIM) catalog for more comprehensive information on ALG6 gene-related diseases and genetic changes (OMIM website). The OMIM catalog provides a wealth of information on various genetic disorders and their associated genes.

Furthermore, there are other resources available that offer genetic testing services for ALG6-related conditions. These services can help identify specific genetic changes and offer insights into potential treatment options.

It is recommended to consult with healthcare professionals and specialists to understand the implications of genetic changes in the ALG6 gene and their impact on overall health and well-being.

Please note that the listed articles and references are sourced from PubMed and are provided for informational purposes. They should not be considered as a substitute for professional medical advice.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) is a registry that provides information on genetic conditions and the genes associated with them. OMIM is a comprehensive database that collects and organizes scientific information related to genetic disorders. It includes information on genes, diseases, genetic variants, and their clinical manifestations.

See also  Adenosine deaminase 2 deficiency

The catalog lists genes that are known to be associated with specific diseases and includes information on the genetic changes (variants) that can cause these diseases. One of the genes listed in this catalog is the ALG6 gene.

The ALG6 gene is involved in the process of glycosylation, which is the addition of sugar molecules to proteins and lipids. Mutations in the ALG6 gene can lead to a condition known as ALG6-congenital disorder of glycosylation (ALG6-CDG). This disorder is characterized by abnormalities in protein glycosylation and can manifest as a range of symptoms affecting multiple organ systems.

To diagnose ALG6-CDG, genetic testing can be performed to identify specific changes in the ALG6 gene. This testing can be done using various methods, such as sequencing the gene or testing for the presence of specific genetic variants. The results of these tests can help confirm a diagnosis and provide important information for managing the condition.

Additional information on the ALG6 gene and ALG6-CDG can be found in scientific articles and databases, such as PubMed. These resources provide further details on the genetic changes associated with the disorder, as well as information on other related genes and conditions.

In summary, the Catalog of Genes and Diseases from OMIM is a valuable resource for understanding the genetic basis of diseases. It provides information on genes, genetic variants, and associated diseases, including the ALG6 gene and ALG6-CDG. By compiling and organizing information from various sources, OMIM helps researchers and healthcare professionals stay informed about the latest advances in genetic medicine.

Gene and Variant Databases

The ALG6 gene, also known as alg6-congenital disorder of glycosylation (ALG6-CDG), is a gene that is involved in the process of adding sugar molecules to proteins. Mutations in this gene can cause a range of different disorders and conditions.

There are several databases that provide information on the ALG6 gene and its variants. These databases compile data from scientific articles, genetic testing, and other resources.

  • PubMed: PubMed is a widely-used database for scientific articles. It contains a wealth of information on the ALG6 gene and related topics. Researchers can search for references to the gene and find additional information on its function, genetic changes, and associated conditions.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database catalogs genes and genetic conditions. It provides detailed information on the ALG6 gene, including its function, associated diseases, and genetic changes.
  • ALG6-CDG Registry: The ALG6-CDG Registry is a database specifically focused on the ALG6 gene and the congenital disorder of glycosylation caused by mutations in this gene. It collects information on patients with this disorder, including their symptoms, genetic changes, and treatment approaches.

In addition to these databases, there are other resources available for information on the ALG6 gene and related conditions. Genetic testing laboratories often provide information on the gene and offer tests for this specific variant. Scientific articles published by researchers in the field can also provide valuable insights into the gene’s function and its role in different diseases.

Overall, these gene and variant databases serve as valuable tools for researchers, healthcare professionals, and individuals interested in learning more about the ALG6 gene and its associated conditions.

References

  • Resources for information on the ALG6 gene:
    • ALG6-CDG – This is a genetic disorder caused by changes in the ALG6 gene. Additional information can be found on:
    • OMIM – A catalog of human genes and genetic conditions
    • PubMed – A database of scientific articles
    • Databases for genetic testing
  • Related articles on ALG6 gene:
    • Hennet, T. et al. (2012). Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides. Journal of Inherited Metabolic Disease, 35(4), 643-651.
  • Other genetic diseases and conditions related to the ALG6 gene:
    • ALG6-congenital disorder of glycosylation

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