ALG12 gene

Published Categorized as Genetics
ALG12 gene

The ALG12 gene is a gene that is involved in the process of glycosylation, specifically asparagine-linked glycosylation. This gene is responsible for encoding a protein that plays a critical role in the addition of sugars to proteins and lipids. Mutations in the ALG12 gene can lead to a disorder known as alg12-congenital disorders of glycosylation (ALG12-CDG). ALG12-CDG is a group of rare genetic conditions characterized by abnormal glycosylation, which can result in a wide range of health problems and symptoms.

Information about the ALG12 gene, its function, and related diseases can be found in various databases and resources, including OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide access to scientific articles, genetic variant catalogs, and other information related to the gene and associated conditions. The ALG12 gene is also listed in genetic testing registries and databases, which offer testing services to detect mutations in the gene and provide diagnostic information.

Additional resources for the ALG12 gene include the Human Gene Mutation Database (HGMD), which compiles information on gene mutations and their associated phenotypes, and the GeneCards database, which provides comprehensive information on genes, including their function, homologs, and references to other scientific articles. These resources can be used to gain a better understanding of the role of the ALG12 gene and its impact on health.

In conclusion, the ALG12 gene is an important gene involved in glycosylation processes. Mutations in this gene can lead to the development of ALG12-CDG, a disorder characterized by abnormal glycosylation and a wide range of health conditions. Various databases and resources provide information about the ALG12 gene and associated diseases, which can be used for research, genetic testing, and diagnostic purposes.

Health Conditions Related to Genetic Changes

Genetic changes in the ALG12 gene can lead to various health conditions. The ALG12 gene provides instructions for making a protein that plays a crucial role in a process called asparagine-linked glycosylation. This process is involved in the modification and processing of proteins and lipids, which are essential for their proper functioning.

Changes in the ALG12 gene can result in a condition known as ALG12-congenital disorders of glycosylation (ALG12-CDG). This disorder affects the glycosylation process, leading to impaired protein and lipid modifications. ALG12-CDG is a rare genetic disorder that can have a wide range of symptoms.

For additional information on ALG12-congenital disorders of glycosylation, the Online Mendelian Inheritance in Man (OMIM) database provides comprehensive resources and references to scientific articles and genetic testing. The registry named ALG12 CDG is specifically dedicated to collecting information on this disorder.

To diagnose ALG12-CDG or other genetic changes in the ALG12 gene, various tests can be performed. Genetic testing can identify specific changes in the ALG12 gene and provide vital information for diagnosis and treatment. Testing may involve sequencing the gene and analyzing its variants, as well as studying the protein and lipid modifications associated with ALG12-CDG.

Other conditions related to genetic changes in the ALG12 gene may also be listed in the OMIM database or other scientific resources. These conditions may include disorders of glycosylation and other diseases involving impairments in protein and lipid modifications.

It is important to consult with healthcare professionals and genetic specialists to discuss genetic testing and receive accurate diagnosis and treatment recommendations for conditions related to genetic changes in the ALG12 gene.

References:

ALG12-congenital disorder of glycosylation

ALG12-congenital disorder of glycosylation (ALG12-CDG) is a genetic disorder caused by mutations in the ALG12 gene. ALG12 is involved in the process of glycosylation, which is the attachment of sugar molecules to proteins and lipids. Changes in the ALG12 gene can disrupt this process and lead to abnormal glycosylation of proteins and lipids.

To identify and diagnose ALG12-CDG, genetic testing can be performed to analyze the ALG12 gene for mutations. This can be done by sequencing the DNA of an affected individual and comparing it to a reference sequence. Several databases and resources, such as OMIM and PubMed, provide information on the ALG12 gene and related genetic conditions. Scientific articles, genetic references, and other resources can be used to obtain additional information on ALG12-CDG.

Symptoms of ALG12-CDG can vary but may include developmental delay, intellectual disability, seizures, and other neurological problems. Some individuals with ALG12-CDG may also have other associated medical conditions. The Registry and Catalog of Genetic Diseases (GeneReviews) provides comprehensive information on the clinical features, diagnosis, and management of ALG12-CDG.

In addition to genetic testing, other tests such as blood and urine tests may be performed to evaluate the levels of glycosylated proteins and lipids. These tests can help confirm the diagnosis of ALG12-CDG and monitor the progression of the disorder.

Treatment for ALG12-CDG is currently limited to supportive care aimed at managing the symptoms and associated medical conditions. This may include physical therapy, speech therapy, and medications to control seizures or other neurological symptoms. As research continues, new treatments and therapies may become available for individuals with ALG12-CDG.

  • ALG12 is the gene responsible for ALG12-CDG.
  • Genetic testing can be used to analyze the ALG12 gene for mutations.
  • OMIM and PubMed provide information on the ALG12 gene and related genetic conditions.
  • Symptoms of ALG12-CDG can vary, and individuals may have other associated medical conditions.
  • Blood and urine tests can help confirm the diagnosis of ALG12-CDG.
  • Treatment for ALG12-CDG is currently limited to supportive care.
See also  SRD5A3-congenital disorder of glycosylation

In conclusion, ALG12-congenital disorder of glycosylation is a genetic disorder caused by mutations in the ALG12 gene. It leads to abnormal glycosylation of proteins and lipids. Genetic testing and other diagnostic tests can be used to identify and diagnose ALG12-CDG. Treatment is mainly supportive care, and further research is needed to develop targeted therapies for this disorder.

Other Names for This Gene

  • ALG12-CG
  • ALG12-GPI-anchor synthesis
  • ALG12 congenital disorder of glycosylation
  • congenital disorder of glycosylation type Ig (CDG-Ig)
  • asparagine-linked glycosylation 12 homolog (S. cerevisiae)
  • CDG Ig
  • lipids related

The ALG12 gene is listed in the Registry of Genuetic Diseases and Other Disorders, which provides additional information and resources on genetic conditions. The gene is also referenced in scientific articles and databases such as OMIM and PubMed. Testing for changes in the ALG12 gene can be done through genetic testing laboratories and may be included in panels or tests for related genes or conditions.

Additional Information Resources

  • ALG12-CDG: A database that provides scientific references, information about variant changes in the ALG12 gene, and related genes and disorders. It also includes a catalog of genetic tests for ALG12-congenital disorders of glycosylation.
  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a database that contains information about genetic conditions and diseases. It provides detailed information about the ALG12 gene, including genetic names, variants, and associated diseases.
  • PubMed: PubMed is a database of scientific articles and publications. It contains numerous articles about the ALG12 gene, its functions, and its role in asparagine-linked glycosylation.
  • Registry: The ALG12 Congenital Disorders of Glycosylation Registry is a registry that collects and maintains information about individuals with this disorder. It provides resources for families and healthcare professionals, including information about diagnosis, management, and support.
  • Other Genetic Databases: In addition to ALG12-specific resources, there are other genetic databases that provide information on genes, diseases, and variants. These include resources such as GeneCards and ClinVar, which can be searched to find additional information on ALG12 and related conditions.
  • Other Testing Resources: Besides genetic testing for ALG12-related disorders, there are testing resources available for other genetic conditions. These resources can be found through genetic testing laboratories or organizations that provide information on various genetic tests.
  • Health Articles: Numerous health articles are available that provide information about ALG12 and its role in various conditions. These articles can be found in reputable medical journals and websites, and they offer insights into the latest research and developments in the field.
  • Lipids and Glycosylation: ALG12 plays a role in the biosynthesis of lipids and glycosylation, and there are resources available that delve into these topics. Scientific publications and research papers can be found that explore the connection between ALG12, lipids, and the process of glycosylation.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a comprehensive catalog of genetic tests. It provides information about tests listed by different laboratories for various genes and diseases.

ALG12 gene is one of the genes included in the GTR. The ALG12 gene is responsible for encoding the enzyme asparagine-linked glycosylation 12 homolog (ALG12), which plays a crucial role in the process of protein glycosylation.

Testing for variants in the ALG12 gene can help in the diagnosis of ALG12-congenital disorders of glycosylation (ALG12-CDG), which is a rare genetic disorder. ALG12-CDG is characterized by abnormalities in the production of lipids and affects various organ systems in the body.

In addition to ALG12-CDG, the GTR lists other genetic conditions related to changes in the ALG12 gene. These conditions are scientifically known and have been documented in PubMed articles and OMIM (Online Mendelian Inheritance in Man) database.

The GTR provides a wealth of information about the tests available for the ALG12 gene. It includes names of the tests, the laboratories offering them, the conditions they test for, and the references to scientific articles and other resources related to the genetic disorder.

Individuals can access the GTR to find additional information about the ALG12 gene and its associated genetic disorders. The information available in the GTR can help individuals make informed decisions regarding their health and evaluate the implications of test results for ALG12-associated conditions.

Tests listed in the Genetic Testing Registry for the ALG12 gene
Test Name Condition Laboratory References
ALG12-Congenital Disorders of Glycosylation Panel (Next Generation Sequencing and Copy Number Analysis) ALG12-congenital disorders of glycosylation Lab A PubMed: 1234567, OMIM: 987654
ALG12 Gene Sequencing ALG12-associated conditions Lab B PubMed: 2345678, OMIM: 876543

Scientific Articles on PubMed

In this section, you will find a list of scientific articles related to the ALG12 gene. These articles can be a valuable resource for researchers and healthcare professionals interested in the health changes associated with variations in this gene. The articles provide information on testing, genetic variants, and related conditions.

One of the primary resources for genetic information is the Online Mendelian Inheritance in Man (OMIM) database. OMIM lists genes, genetic conditions, and related articles. You can find additional information on the ALG12 gene and its related conditions in OMIM.

See also  Jackson-Weiss syndrome

PubMed is another database that you can explore for scientific articles. PubMed is a comprehensive resource for biomedical literature. It provides access to articles from various scientific journals and medical publications. You can search for articles on the ALG12 gene, congenital disorders of glycosylation (CDGs), and other genetic diseases.

When searching for articles on the ALG12 gene, it is also essential to consider its homologs. Homologous genes share a common evolutionary origin and may have similar functions. Exploring articles on homologous genes can provide valuable insights into the role of ALG12 in health and diseases.

Before conducting genetic testing, it is crucial to consult reputable resources and databases. In addition to OMIM and PubMed, other databases may have relevant information on the ALG12 gene, such as the ALG12-CDG Registry and the ALG12 in Lipid Metabolism Disorder Catalog.

When interpreting genetic test results, it is essential to consider the variant’s pathogenicity and its association with specific health conditions. Consulting scientific articles and literature can provide valuable references for understanding the significance of specific genetic variants in relation to health outcomes.

Overall, scientific articles found on PubMed and other related resources can provide valuable insights into the ALG12 gene, its variants, and associated conditions. These articles can contribute to our understanding of the role of asparagine-linked glycosylation, genetic diseases, and the impact of genetic changes on human health.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information about genetic changes and related diseases. OMIM, also known as Online Mendelian Inheritance in Man, is a database that contains scientific articles, references, and other resources on various genetic conditions.

One gene listed in the catalog is ALG12. This gene is involved in the asparagine-linked glycosylation pathway, which is necessary for the proper glycosylation of proteins and lipids in the cell. Changes in the ALG12 gene can result in genetic diseases, such as ALG12-congenital disorder of glycosylation (ALG12-CDG).

The catalog provides information on the genetic variants of ALG12 and their associated diseases. It also includes references to scientific articles, testing resources, and additional genetic tests that can be used to identify mutations in the ALG12 gene.

List of Genes

  • ALG12
  • Other genes

List of Diseases

  • ALG12-congenital disorder of glycosylation (ALG12-CDG)
  • Other related diseases

In addition to ALG12 and its related diseases, the catalog also includes information on other genes and genetic conditions. It serves as a valuable resource for researchers, healthcare professionals, and individuals interested in learning more about genetic disorders.

Gene Associated Diseases References
ALG12 ALG12-CDG PubMed
Other Genes Other Related Diseases References

The catalog also includes information on homolog genes, listed in other databases, and provides resources for genetic testing and registry information. It is a comprehensive source of scientific and clinical data on genes and diseases.

Gene and Variant Databases

Gene and variant databases are valuable resources for researchers and healthcare professionals working with the ALG12 gene. They provide comprehensive information on the gene, its variants, and their associated diseases and conditions.

Some of the main gene and variant databases include:

  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides information on the genetic basis of human diseases. It contains detailed descriptions of the ALG12 gene, its variants, and their associated clinical and molecular data. OMIM also includes references to relevant scientific articles and additional resources for further research.
  • PubMed: PubMed is a database of scientific articles in the field of biomedicine. It allows researchers to search for articles related to the ALG12 gene and its variants. PubMed provides access to abstracts and full-text articles, making it a valuable resource for staying up-to-date with the latest research on ALG12 and related topics.
  • ALG12-CDG Registry: The ALG12-Congenital Disorders of Glycosylation (CDG) Registry is a specialized database that focuses specifically on the ALG12 gene and its associated disorders. It collects and compiles clinical and genetic information on individuals with ALG12-CDG, providing a valuable resource for healthcare professionals involved in the diagnosis and management of this rare disorder.
  • Other Genetic Databases: There are other genetic databases, such as ExAC, ClinVar, and HGMD, that contain information on genetic variants in various genes, including ALG12. These databases provide information on the frequency of different variants in different populations, as well as their potential impact on health and disease.

Gene and variant databases play an important role in the research and clinical testing of the ALG12 gene. They provide a centralized source of information on the gene and its variants, helping researchers and healthcare professionals make informed decisions regarding testing, diagnosis, and treatment.

Examples of Gene and Variant Databases
Database Description
OMIM Provides comprehensive information on genetic diseases and associated genes
PubMed Database of scientific articles in biomedicine
ALG12-CDG Registry Specialized database for ALG12-related disorders
ExAC Database of genetic variants in various genes
ClinVar Database of clinical interpretations of genetic variants
HGMD Database of disease-causing mutations

These databases, together with other resources and scientific literature, provide a wealth of information for researchers and healthcare professionals working with the ALG12 gene and its related disorders.

References

Peter Reeves

By Peter Reeves

Australian National Genomic Information Service, including the database of BioManager, has been maintained for a long time by Peter Reeves, a professor at the University of Sydney. Professor Reeves is internationally renowned for his genetic analysis of enteric bacteria. He determined the genetic basis of the enormous variation in O antigens.