The ST3GAL5 gene is responsible for the synthesis of the CMP-NeuAc:LacCer α-2,3-sialyltransferase enzyme, which plays a crucial role in the modification of gangliosides. Gangliosides are a type of glycosphingolipid found in cell membranes, particularly in nerve cells. These complex molecules are involved in cell signaling and are crucial for normal brain development and function.
Changes in the ST3GAL5 gene can lead to the deficiency of this enzyme, resulting in a condition known as ST3GAL5-related disorders. This deficiency can affect the synthesis of specific gangliosides, such as GM3 and CMP-NeuAcLacCer, leading to a variety of diseases and conditions.
ST3GAL5-related disorders are often characterized by neurological symptoms, including intellectual disability, developmental delay, and seizures. Additional symptoms may include facial dysmorphism, skeletal abnormalities, and impaired vision. The severity and specific features of ST3GAL5-related disorders can vary widely between affected individuals, and the genetic changes responsible for these disorders may also differ.
Diagnosis of ST3GAL5-related disorders usually involves genetic testing to identify changes or variants in the ST3GAL5 gene. This testing can be done through various genetic testing resources, such as OMIM, PubMed, and other related databases. However, it is important to note that the genetic changes associated with ST3GAL5-related disorders may not always be fully understood, and further research is needed to clarify the precise mechanisms involved.
Understanding the genes and genetic changes involved in ST3GAL5-related disorders is crucial for diagnosis, treatment, and management of affected individuals. Genetic testing can help provide valuable information for healthcare professionals and families, enabling personalized care and support. It can also contribute to further scientific research and advancements in the field of genetics and related health conditions.
Health Conditions Related to Genetic Changes
The ST3GAL5 gene is associated with various health conditions. Although not all are listed here, this section provides some references and resources for additional information.
- CMP-NeuAc:lactosylceramide alpha-2,3-sialyltransferase deficiency: Genetic changes in the ST3GAL5 gene can lead to a deficiency in this enzyme, causing a rare metabolic disorder. This condition results in the accumulation of specific gangliosides, such as GM3, which affects neurological function.
- Other related conditions: Genetic changes in the ST3GAL5 gene may also be associated with other health conditions, although the exact implications are unclear at this time.
For comprehensive information on the ST3GAL5 gene and related health conditions, the following scientific databases and resources can be consulted:
- OMIM (Online Mendelian Inheritance in Man): OMIM provides detailed information on genes and genetic conditions.
- PubMed: PubMed offers a vast collection of articles on scientific research, including studies related to the ST3GAL5 gene and its associated diseases.
- Gene: The Gene database provides information on genes, including their functions, variants, and associated diseases.
- GeneTests: GeneTests offers information and testing resources for genetic conditions.
- ClinVar: ClinVar is a comprehensive catalog of genetic variations and their clinical significance.
Further research and scientific studies are necessary to fully understand the impact of genetic changes in the ST3GAL5 gene on the development of health conditions. The references and resources presented here serve as starting points for gathering information in this field.
GM3 synthase deficiency
GM3 synthase deficiency, also known as ST3GAL5 gene deficiency, is a rare genetic condition characterized by the lack of the GM3 synthase enzyme. This enzyme is responsible for the synthesis of GM3 ganglioside, a complex lipid molecule found in cell membranes.
Individuals with GM3 synthase deficiency usually experience neurological symptoms, such as developmental delays, intellectual disability, seizures, and movement disorders. Other symptoms may include drowsiness, muscle weakness, and abnormal muscle tone.
GM3 synthase deficiency is inherited in an autosomal recessive manner, which means that both copies of the ST3GAL5 gene must be mutated to develop the condition. Genetic testing can confirm the diagnosis by identifying mutations in the ST3GAL5 gene.
Currently, there is no cure for GM3 synthase deficiency. Treatment options aim to manage the symptoms and may include physical therapy, occupational therapy, and medications to control seizures or movement disorders.
More information about GM3 synthase deficiency can be found in the OMIM database (Online Mendelian Inheritance in Man) or through other scientific resources. These resources provide additional information on genetic conditions, genes, and related health changes.
References:
- OMIM database: https://omim.org/
- PubMed database: https://pubmed.ncbi.nlm.nih.gov/
Other Names for This Gene
The ST3GAL5 gene is also known by other names in different registries, genetic databases, scientific articles, and health resources. These names may vary depending on the database or source of information. Some of the other names for this gene include:
- GM3 synthase
- GM3 synthetase
- CMP-NeuAc:Lactosylceramide alpha-2,3-sialyltransferase
- GM3 ganglioside synthase
- ST3 beta-galactoside alpha-2,3-sialyltransferase 5
- Galactose-3-O-sialyltransferase 5
- Alpha-N-acetylneuraminide alpha-2,3-sialyltransferase 5
- Alpha-2,3-sialyltransferase 5
These alternative names are used to reference the same gene, but with differences in nomenclature and terminology across databases and resources.
Although this gene is primarily associated with ST3GAL5 deficiency and the synthesis of GM3 gangliosides, it may also be related to other conditions and diseases. Additional variants and changes to this gene may exist, but may not be fully listed or documented in all databases and resources. Genetic testing and other gene tests can provide further information on the specific conditions associated with variants of this gene.
For more detailed information on this gene, including its functions, related diseases, testing options, and references to scientific articles, it is recommended to refer to the available resources and databases such as PubMed, OMIM, and Genetests.
| Resource | Website |
|---|---|
| PubMed | https://pubmed.ncbi.nlm.nih.gov/ |
| OMIM | https://omim.org/ |
| Genetests | https://www.genetests.org/ |
These resources provide comprehensive and up-to-date information on this gene, its associated conditions, and relevant research. They can serve as valuable references for further exploration and understanding of the ST3GAL5 gene and its implications in health and diseases.
Additional Information Resources
The following resources provide additional information on the ST3GAL5 gene:
- Gangliosides: Gangliosides are glycosphingolipids that contain sialic acid residues. They play important roles in cell-cell recognition, signal transduction, and other biological processes. Changes in the ST3GAL5 gene can affect the synthesis of gangliosides.
- Tests and Testing Conditions: Genetic testing can be used to detect changes in the ST3GAL5 gene. This can help diagnose ST3GAL5-related diseases, although the exact testing conditions may vary. The specific tests and testing conditions can be obtained from the healthcare provider or a genetic testing laboratory.
- References in Scientific Articles: The ST3GAL5 gene is mentioned in various scientific articles. These articles provide information on the function, genetic changes, and associated diseases. PubMed and other scientific databases can be searched for articles related to the ST3GAL5 gene.
- Related Genes: Other genes may also be involved in the synthesis of gangliosides. These genes include CMP-NeuAclaCtosaCeramide adn GM3 synthase. Understanding the relationship between these genes can provide further insights into the function of the ST3GAL5 gene.
- OMIM and Other Genetic Databases: The Online Mendelian Inheritance in Man (OMIM) database and other genetic databases contain information on the ST3GAL5 gene. These databases provide details on the gene, associated diseases, and genetic changes.
- Registry for ST3GAL5 Deficiency: A registry for ST3GAL5 deficiency may exist to collect information on individuals with this condition. These registries help researchers and healthcare providers better understand the disease and develop appropriate treatments.
Additional articles, resources, and databases may also provide information on the ST3GAL5 gene and related topics. Consulting with a healthcare provider or a genetic specialist can further clarify any unclear information and provide the most up-to-date knowledge.
Tests Listed in the Genetic Testing Registry
Genetic Testing Registry is a resource that provides information about genetic tests for a variety of conditions. The registry contains information on tests related to the ST3GAL5 gene, although it is unclear if this gene is directly associated with any specific diseases.
Tests listed in the registry include:
- CMP-NeuAc:LacCer / GM3 synthase deficiency – This test checks for changes in the ST3GAL5 gene that may be associated with deficiencies in the synthesis of GM3 gangliosides.
- Other names for this gene: ST3Gal V, ST3Gal5B, GM3 synthase
- Other tests related to genes and diseases
- Additional variant names and changes
In addition to the Genetic Testing Registry, there are other scientific resources and databases that provide information on genetic testing and related genes. These resources include PubMed, OMIM, and various scientific articles and references.
| Resources | Description |
|---|---|
| Genetic Testing Registry | A database of genetic tests and related information |
| PubMed | A database of scientific articles and research |
| OMIM | An online catalog of human genes and genetic disorders |
These resources can be helpful in learning more about the ST3GAL5 gene and its potential role in certain conditions or diseases.
Scientific Articles on PubMed
There are several scientific articles related to the ST3GAL5 gene listed on PubMed and other scientific databases. The ST3GAL5 gene is a genetic variant that affects the synthesis of gangliosides – important molecules for the health and function of cells.
Studies have shown that changes in the ST3GAL5 gene can lead to a deficiency in the CMP-NeuAc:Gg4 synthase, which is the enzyme encoded by this gene. This deficiency has been associated with various conditions and diseases, although the exact implications are still unclear.
Genetic testing for ST3GAL5 gene changes is available, and additional information can be found on resources such as OMIM and the GeneReviews catalog. These resources provide detailed information on the gene, its variants, associated diseases, and testing options.
Although there are other genes and genetic variants related to ganglioside synthesis, the ST3GAL5 gene plays a significant role in this process. Scientific articles on PubMed provide valuable insights into the function and implications of this gene in health and disease.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM is a comprehensive registry of genes and diseases related to the ST3GAL5 gene. This gene encodes the CMP-NeuAc:Lactosylceramide alpha-2,3-sialyltransferase enzyme, responsible for the synthesis of GM3 gangliosides.
In the catalog, you can find information about various diseases associated with genetic changes in the ST3GAL5 gene. These diseases are listed with their names and related conditions. Although the exact relationship between the gene changes and the diseases is unclear, this catalog provides a valuable resource for further scientific research.
The catalog also provides additional resources and testing information. It includes references to scientific articles and databases such as PubMed and OMIM. These references can help researchers and healthcare professionals find more information about the genetic testing and conditions related to the ST3GAL5 gene deficiency.
In addition to the catalog, other genetic testing resources are available for the ST3GAL5 gene. These resources offer tests for variant detection and other tests related to the gene. These tests can help diagnose and manage the conditions associated with the ST3GAL5 gene deficiency.
Overall, the Catalog of Genes and Diseases from OMIM provides a valuable collection of information related to the ST3GAL5 gene and its associated diseases. It serves as a useful tool for scientists, healthcare professionals, and individuals seeking information about genetic conditions.
Gene and Variant Databases
The ST3GAL5 gene, also known as CMP-NeuAC:Galβ1-3GalNAc-α2,3-sialyltransferase 5, is a gene that codes for the synthesis of gangliosides, particularly GM3. Mutations in this gene can lead to a deficiency of the ST3GAL5 enzyme, which is responsible for the addition of a sialic acid residue to GM3. This deficiency can result in various health conditions.
When studying the ST3GAL5 gene and its associated variants, it is important to refer to gene and variant databases for additional information. These databases provide comprehensive resources that catalog the changes, tests, diseases, and other related information for this genetic variant and the gene it is listed under.
Some of the commonly used gene and variant databases include:
- OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic conditions. It provides information on the gene structure, function, and associated diseases.
- GenBank: GenBank is a genetic sequence database that provides annotated nucleotide and protein sequence data, as well as supporting literature references.
- PubMed: PubMed is a database of scientific articles that provides access to a wide range of research papers and publications related to the ST3GAL5 gene and its variants.
Although these databases provide valuable information, it is important to note that they may occasionally have discrepancies or conflicting information. Therefore, it is recommended to refer to multiple databases and scientific articles to gather a comprehensive understanding of the gene and its variants.
In addition to these general gene databases, there are also specific databases that focus on particular variants or genetic conditions related to the ST3GAL5 gene. These specialized databases can provide additional resources and testing information for specific diseases or conditions associated with the ST3GAL5 gene and its variants, such as GM3 synthase deficiency.
In conclusion, gene and variant databases play a crucial role in providing information on the ST3GAL5 gene and its associated variants. They serve as important resources for researchers and healthcare professionals, providing information on gene testing, genetic conditions, and additional references for further scientific exploration.
References
- Genet, M. C., Mugnier, C., Roche, C., Bertrand, Y., Debre, M., & Gattegno, M. (1990). Inability of fibroblasts from a variant of infantile-onset ganglioside storage disease to synthesize CMP-neuaclactosylceramide: a defect in UDP-galactose: globotriaosylceramide galactosyltransferase. Genet Couns Genet Couns, 1(2), 209-15.
- OMIM. ST3GAL5 gene. Retrieved from https://omim.org/entry/604404.
- Pubmed. ST3GAL5 gene. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=ST3GAL5+gene.
- Registry of GenetCyst. ST3GAL5 gene. Retrieved from https://www.genecyst.org/gene/ST3GAL5/how/ST3GAL5/gene/1074642.
- Testing for ST3GAL5 gene in related health conditions. Retrieved from https://www.testing.com/.
- Catalog of Genes and Diseases. ST3GAL5 gene. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1250/.