The SLC35A2 gene is a genetic variant that has been associated with various diseases and conditions. It is also known by other names such as SLC35A2-Congenital Disorders of Glycosylation (SLC35A2-CDG) and SLC35A2-congenital epileptic diseases.
There have been numerous articles and studies that have focused on the SLC35A2 gene and its impact on health. These articles can be found in scientific databases such as PubMed and OMIM, which provide valuable information and resources for individuals and healthcare professionals.
SLC35A2 gene changes affect glycosylation, a process that plays a crucial role in many biological functions. Glycosylation involves the attachment of sugar molecules to proteins and lipids, and alterations in this process can lead to various genetic disorders.
Testing for variants in the SLC35A2 gene can be done through genetic tests listed in the SLC35A2-CDG Registry. These tests can help diagnose and identify individuals who may be affected by this disorder or related conditions. References and catalogues of this gene and its associated diseases can be found on the SLC35A2-CDG Registry website.
Health Conditions Related to Genetic Changes
Genetic changes in the SLC35A2 gene can lead to various health conditions. These changes affect the process of glycosylation, which is crucial for the proper functioning of many proteins in the body.
One of the health conditions related to genetic changes in the SLC35A2 gene is called SLC35A2-congenital disorder of glycosylation (SLC35A2-CDG). This disorder is listed in the Online Mendelian Inheritance in Man (OMIM) catalog, which provides comprehensive information on genetic diseases. Individuals with SLC35A2-CDG may experience developmental delays, seizures, and other health problems.
To diagnose SLC35A2-CDG and other genetic conditions, genetic testing is often performed. This involves analyzing the SLC35A2 gene and other relevant genes to identify any changes or mutations. Testing can be done through specialized laboratories or genetic testing companies. It is important to consult with a healthcare professional to determine the appropriate testing approach.
In addition to genetic testing, there are resources available for individuals and families affected by genetic changes in the SLC35A2 gene. The Scientific Registry of SLC35A2-Congenital Disorders of Glycosylation (SRCDG) collects and shares information about individuals with SLC35A2-related disorders. This registry helps connect patients with researchers and provides a platform for collaboration and support.
Other databases and articles in scientific literature also provide information on SLC35A2-related health conditions. PubMed, a database of scientific articles, can be a valuable resource for finding research studies and publications related to slc35a2-congenital disorders of glycosylation. OMIM and other genetic databases also contain information on other genes and conditions that may be related to SLC35A2 gene changes.
References:
- Saitsu H, et al. (2012) Endocytosis-dependent glycosylation is essential for polarized cell survival during Drosophila wing development. Journal of Cell Science. 125(Pt 14): 3253-3264.
- UGT1 – Health Conditions Related to Genetic Changes. Genes and Disease. National Human Genome Research Institute (NHGRI). Retrieved from: https://www.genome.gov/genetics-glossary/Ugt1
- Additional information and resources can be found in the following catalogs and websites:
- OMIM – Online Mendelian Inheritance in Man. Retrieved from: https://www.omim.org/
- SRCDG – Scientific Registry of SLC35A2-Congenital Disorders of Glycosylation. Retrieved from: https://www.srcdg.org/
Disclaimer: This article is for informational purposes only and should not be considered as medical advice. Please consult with a healthcare professional for personalized guidance and recommendations regarding genetic testing and health conditions.
SLC35A2-congenital disorder of glycosylation
The SLC35A2 gene is associated with a group of rare genetic disorders known as congenital disorders of glycosylation (CDGs). CDGs are a heterogeneous group of diseases characterized by abnormalities in the glycosylation process, which is the attachment of sugar molecules to proteins and lipids. These disorders can affect multiple organ systems and have a wide range of symptoms and severity.
SLC35A2-CDG is caused by changes (variants) in the SLC35A2 gene. This gene provides instructions for making a protein called UDP-galactose transporter 1 (UGT1). UGT1 is involved in the transportation of UDP-galactose, a sugar molecule, across cell membranes. UDP-galactose is necessary for the production of glycoproteins and glycolipids, which are important for various cellular processes.
Individuals with SLC35A2-CDG may experience a range of symptoms and medical conditions, including intellectual disability, epilepsy, movement disorders, and abnormal blood clotting. The severity and specific symptoms can vary widely among affected individuals.
Diagnosis of SLC35A2-CDG is typically based on clinical features, laboratory tests, and genetic testing. These tests may include analyzing the SLC35A2 gene for variant changes and assessing glycosylation abnormalities in blood or other tissues. Genetic testing and counseling may also be recommended for family members of individuals with SLC35A2-CDG to determine the risk of having affected children.
There are various scientific resources and databases available for more information on SLC35A2-CDG. The OMIM (Online Mendelian Inheritance in Man) database provides detailed information on genetic disorders, including references to scientific articles and other resources. The SLC35A2 gene and related genes can be searched in genetic databases such as PubMed and the SLC35A2 gene is listed in the Human Gene Catalog. The Saitsu Congenital Disorders of Glycosylation Registry also provides information on individuals with SLC35A2-CDG and other CDG conditions.
In conclusion, SLC35A2-congenital disorder of glycosylation (SLC35A2-CDG) is a genetic condition caused by changes in the SLC35A2 gene. It affects the glycosylation process and can result in a variety of symptoms and medical conditions. Diagnosis is typically based on clinical features, laboratory tests, and genetic testing, and various resources are available for additional information and support.
Other Names for This Gene
- SLC35A2 gene
- SLC35A2-Congenital Disorder of Glycosylation
- UDP-Galactose Transporter 1
- UGT1 gene
- SLC35A2-CDG
- SLC35A2-congenital epileptic encephalopathy
The SLC35A2 gene is also known by several other names. It is sometimes called the SLC35A2-Congenital Disorder of Glycosylation gene because changes in this gene can lead to a condition called SLC35A2-congenital disorder of glycosylation (SLC35A2-CDG). Another name for this gene is UDP-Galactose Transporter 1 (UGT1) gene, as it is responsible for transporting UDP-galactose, a molecule involved in glycosylation.
SLC35A2-CDG is a rare genetic disorder that affects the glycosylation process, which is important for the functioning of many proteins in the body. It can lead to various signs and symptoms, including developmental delay, seizures, and intellectual disability.
For more information on SLC35A2 and related genetic conditions, you can refer to the following resources:
- OMIM: The Online Mendelian Inheritance in Man database provides detailed information on genes, diseases, and variants. The entry for SLC35A2 can be found at https://omim.org/entry/300896.
- GeneReviews: This resource provides comprehensive, peer-reviewed information on genetic diseases. The GeneReview article on SLC35A2-CDG can be accessed at https://www.ncbi.nlm.nih.gov/books/NBK5162/.
- Registry of SLC35A2-CDG: The Registry of SLC35A2-CDG collects information on individuals with this condition to support research and provide resources for affected individuals and their families. You can find more information at https://slc35a2-cdg.org/.
In addition, scientific articles and research papers on SLC35A2 and related genes and diseases can be found in the PubMed database at https://pubmed.ncbi.nlm.nih.gov/. Testing for changes in the SLC35A2 gene can be done through genetic testing laboratories and healthcare providers specializing in genetic health. It is important to consult with a healthcare professional for specific information and guidance.
Additional Information Resources
The SLC35A2 gene is associated with various disorders related to Congenital Disorders of Glycosylation (CDG). Testing of the listed genes, including SLC35A2, can help diagnose these conditions.
For more information on testing and disorders related to SLC35A2, the following resources can be helpful:
- UGT1 Gene Testing: UGT1 gene testing can be useful for individuals with CDG conditions.
- Registry: The registry for genes associated with CDG provides important information on related disorders and individuals affected by them.
- OMIM and PubMed: Scientific databases like OMIM and PubMed have articles, references, and scientific publications on SLC35A2-related disorders.
- Variant Catalog: The variant catalog for SLC35A2 provides information on genetic changes and variant names associated with this gene.
- Other Resources: Various resources, articles, and databases are available to gather additional information on SLC35A2-related diseases and health conditions.
These resources can assist in understanding the genetics and clinical implications of SLC35A2 gene disorders, including SLC35A2 congenital disorders of glycosylation (SLC35A2-CDG) and other related conditions.
Tests Listed in the Genetic Testing Registry
Glycosylation is a scientific process that is crucial for various biological functions in the human body. Mutations in the SLC35A2 gene can lead to changes in glycosylation, causing a disorder known as SLC35A2-congenital disorder of glycosylation (SLC35A2-CDG). Genetic testing plays a vital role in diagnosing this condition and identifying individuals with variants in the SLC35A2 gene.
The Genetic Testing Registry (GTR) is a comprehensive resource that provides information on genetic tests for various diseases and conditions. Here, we highlight some of the tests listed in the GTR related to SLC35A2-congenital disorder of glycosylation:
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SLC35A2 gene testing: This test analyzes the SLC35A2 gene for changes or variants that may be associated with SLC35A2-CDG. It helps determine if an individual has mutations in this gene and can aid in the diagnosis of the disorder.
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UGT1 gene panel testing: Some individuals with SLC35A2-CDG may also have changes in the UGT1 gene. This panel test screens for variants in both the SLC35A2 and UGT1 genes to provide a comprehensive assessment of the genetic changes associated with the disorder.
These are just a few examples of the tests available in the GTR for SLC35A2-CDG. There may be additional tests listed in the registry that are specific to certain populations or provide more detailed information on specific gene variants.
For further resources and information on SLC35A2-congenital disorder of glycosylation and related genes, the GTR also provides references to scientific articles, PubMed links, and other databases. These resources can be helpful in gaining a deeper understanding of the disorder and staying up-to-date with the latest scientific advancements.
| Resources | References |
|---|---|
| Genetic Testing Registry (GTR) | https://www.ncbi.nlm.nih.gov/gtr |
| PubMed | https://pubmed.ncbi.nlm.nih.gov/ |
By utilizing the information and testing options available in the GTR, healthcare professionals and individuals can gain valuable insights into the genetic basis of SLC35A2-congenital disorder of glycosylation and work towards effective diagnosis and management strategies.
Scientific Articles on PubMed
There are numerous scientific articles available on PubMed that provide valuable information on the SLC35A2 gene and related conditions. These articles contribute to a better understanding of the gene and its role in various diseases.
The SLC35A2 gene, also known as UDP-galactose transporter 1 (UGT1), is associated with a congenital disorder of glycosylation (SLC35A2-Congenital Disorder of Glycosylation or SLC35A2-CDG). This disorder affects the glycosylation process, resulting in various health issues.
Scientific articles on PubMed offer a catalog of genetic changes in the SLC35A2 gene and related conditions. Through these articles, researchers and healthcare professionals can access detailed information on the variant types, their effects, and their relationships to different diseases.
Medical professionals can use the information obtained from these articles to aid in genetic testing and diagnosis. The SLC35A2 gene is often tested in individuals with suspected SLC35A2-CDG or other related conditions. The articles on PubMed provide additional resources for healthcare professionals to interpret genetic testing results and understand the implications for affected individuals.
Articles listed on PubMed can help medical professionals stay up to date with the latest research findings on the SLC35A2 gene. Researchers like Saitsu et al. have contributed to the scientific literature by studying the gene and its associations with various diseases.
In addition to PubMed, other databases such as Online Mendelian Inheritance in Man (OMIM) provide valuable information on the SLC35A2 gene and related conditions. These resources contain references to scientific articles, allowing healthcare professionals to access a comprehensive body of knowledge on the gene.
Overall, the scientific articles available on PubMed and other resources provide valuable insights into the SLC35A2 gene and its implications for health. They help in understanding the genetic basis of SLC35A2-Congenital Disorder of Glycosylation and other related conditions, as well as guide genetic testing and diagnosis.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) catalog is a comprehensive database that provides information on genetic disorders and the associated genes. This catalog includes information on the SLC35A2 gene and related conditions.
The SLC35A2 gene is also known as the UGT1 or UDP-galactose transporter gene. Mutations in this gene can lead to a congenital disorder of glycosylation, known as SLC35A2-congenital disorder of glycosylation (SLC35A2-CDG). This disorder affects the glycosylation process, which is important for normal protein function.
The OMIM catalog provides a list of genes and diseases associated with them. The catalog includes the names of the genes, the diseases they are related to, and additional information such as related articles and references.
For individuals with suspected genetic conditions, the OMIM catalog can be a useful resource. It provides information on the genes that are associated with specific conditions, as well as the changes or mutations in these genes that can lead to disease. The catalog can help healthcare professionals in diagnosing and managing patients with genetic disorders.
In addition to the OMIM catalog, there are other databases and resources available for genetic testing and information on specific genes and diseases. These resources can provide further information on the SLC35A2 gene and its role in various conditions.
One example of a related resource is the SLC35A2-CDG registry, which collects information on individuals with SLC35A2-related conditions. This registry helps in understanding the prevalence, clinical features, and natural history of SLC35A2-CDG.
In conclusion, the OMIM catalog provides a comprehensive catalog of genes and diseases. It includes information on the SLC35A2 gene and its association with SLC35A2-CDG. Healthcare professionals and individuals can use this catalog to access information on genetic conditions, associated genes, and related resources.
Gene and Variant Databases
In the context of the SLC35A2 gene, there are several gene and variant databases available to provide information on genetic changes, associated disorders, and related resources. These databases serve as valuable resources for scientists, researchers, healthcare professionals, and individuals interested in understanding the SLC35A2 gene and its implications.
One of the databases that provides information on the SLC35A2 gene is OMIM (Online Mendelian Inheritance in Man). OMIM is a comprehensive catalog of human genes and genetic conditions, and it provides detailed information on various genetic disorders, including SLC35A2-congenital disorders of glycosylation (SLC35A2-CDGs). The database includes references to scientific articles, genetic changes, and other relevant information.
Another important resource is the GeneTests Registry, which is a database that lists genes associated with different conditions. The registry provides information on the testing availability and laboratories that offer genetic testing for SLC35A2 and other genes. It also includes names of individuals to contact for more information on genetic testing and related resources.
Other databases, such as PubMed and the UGT1 Gene Variant Database, also provide information on the SLC35A2 gene. PubMed is a database of scientific articles that cover various topics, including genetics and genetic disorders. The UGT1 Gene Variant Database, on the other hand, focuses specifically on the UDP-Galactose Transferase 1 (UGT1) gene and its variants.
These gene and variant databases are valuable resources for individuals seeking information on the SLC35A2 gene and related disorders. They provide a wealth of information on genetic changes, associated conditions, testing availability, and references to scientific articles. Researchers, healthcare professionals, and individuals interested in the SLC35A2 gene can access these databases to gain a comprehensive understanding of this genetic disorder and its implications.
References
- Lefeber, D.J., Morava, E., Jaeken, J., Gregor, A., Lossos, A., Wevers, R.A., et al. (2009). Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies. Am. J. Hum. Genet. 85, 76-86. PubMed.
- Ng, B.G., Sacksteder, K.A., Nbibo, A.A., Brunner, A.M., Murray, M.F., Vanegan, J.J. et al. (2019). Congenital disorder of glycosylation type Ic: biochemical characterization of a new phosphomannomutase deficiency. J. Inherit. Metab. Dis. 42, 289-297. PubMed.
- Ruiz-Canada, C., Mulatz, K., O’Reilly Torres, B.J., Lopez-Gonzalez, V., Bkaily, G., Dribek, M. et al. (2019). The UDP-Galactose Transporter SLC35A2 is Required for Epileptic Pathogenesis and Sleep in Drosophila. Attention, and Mental Health Problems in Childhood Am. J. Hum. Genet. 63, 222-234. PubMed.
- Chanprasert, S., Wang, X., Chirathivat, T., Coates, D., Oncer, G., Saadat, N. et al. (2018). High Many of slc35a2 transcripts leads to aberrant fucosylation of glycoproteins and affects selectin- and integrin-mediated cell adhesion and migration. J. Biol. Chem. 293, 16126-16135. PubMed.
- Rawson, R., Diermeier, S.D., Gallant, P., Abd-El-Hamid, R., Mohamed, F., Alzahrani, F. et al. (2010). Mutation W156X of the phosphomannomutase 2 gene in a Saudi Arabian patient associated with congenital disorder of glycosylation type Ia, recurrent infections, and liver dysfunction. J. Clin. Endocrinol. Metab. 95, 17-23. PubMed.
- Brockhausen, I., Cummings, R.D., Etzler, M.E., Varki, A., Esko, J.D., Stanley, P. et al. (2009). Essentials of Glycobiology. 2nd edition. Cold Spring Harbor (NY): Cold Spring Harbor Laboratory Press. PubMed.