The G6PC gene is associated with glycogen storage disease type Ia (GSDIA). GSDIA is a genetic disease that affects the storage of glycogen, a form of glucose, in the body. It is listed in the OMIM database, which contains information on genes and genetic conditions. The G6PC gene variant is responsible for the condition, and changes in this gene can lead to a lack of glucose-6-phosphatase production.
G6PC gene testing can be used to diagnose GSDIA and other related glycogen storage diseases. The gene variant can be identified through genetic testing, which examines the DNA sequence of the gene. This information can be useful for providing additional resources on the condition, as well as for genetic counseling and health management. Tests for the G6PC gene variant can be found in various genetic testing databases and registries.
References to the G6PC gene can be found in scientific articles and publications. The OMIM database and PubMed catalog are good resources for finding information on the gene and related diseases. The G6PC gene is also associated with other conditions and storage diseases, so it is important to consider this when researching genetic testing options.
Health Conditions Related to Genetic Changes
Genetic changes in the G6PC gene are associated with various health conditions that affect glycogen storage. Glycogen storage diseases (GSDs) are a type of inherited metabolic disorder characterized by an impaired glycogen metabolism.
The G6PC gene, also known as glucose-6-phosphatase, encodes an enzyme that plays a crucial role in glycogen metabolism. This enzyme is responsible for the production of glucose-6-phosphate from glycogen, which is then converted to glucose for energy.
Genetic changes in the G6PC gene can lead to a deficiency or dysfunction of the glucose-6-phosphatase enzyme, resulting in abnormal glycogen storage. This can cause a range of health conditions, including:
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- Glycogen storage disease type Ia (GSDIa): This is the most common type of GSD and is caused by mutations in the G6PC gene. Individuals with GSDIa have impaired glycogen metabolism, leading to the accumulation of glycogen in the liver and kidneys.
- Glycogen storage disease type Ia (GSDIb): This type of GSD is also caused by mutations in the G6PC gene. GSDIb is characterized by impaired glycogen metabolism and abnormalities in the immune system and digestive system.
- Other glycogen storage diseases: Genetic changes in the G6PC gene can also be associated with other types of GSDs, including GSDIII, GSDIV, and GSDIX. Each type has its own specific characteristics and symptoms.
Diagnosis of these health conditions often involves genetic testing to identify G6PC gene variants. Health professionals can use various resources, such as scientific databases like OMIM (Online Mendelian Inheritance in Man), to find information on the G6PC gene and related diseases.
Additionally, the Genetic Testing Registry (GTR) catalogs genetic tests for G6PC gene variations and provides information on available tests, laboratories, and related diseases.
Individuals with suspected or confirmed genetic changes in the G6PC gene can find additional information and resources through patient advocacy organizations, scientific articles on PubMed, and other online resources.
In conclusion, genetic changes in the G6PC gene can have significant implications for glycogen storage and lead to various health conditions. Understanding these genetic changes and their effects is crucial for diagnosis, treatment, and management of these diseases.
Glycogen storage disease type I
Glycogen storage disease type I (GSDI), also known as von Gierke disease, is a genetic disorder caused by mutations in the G6PC gene. This gene provides instructions for making an enzyme called glucose-6-phosphatase, which plays a crucial role in glycogen metabolism.
GSDI is classified into two types: GSDIa and GSDIb. GSDIa is the most common type, caused by mutations in the G6PC gene. GSDIb is caused by mutations in the SLC37A4 gene, which is involved in transporting glucose-6-phosphate into the endoplasmic reticulum, where glucose-6-phosphatase is located. Both types result in impairment of glucose homeostasis and glycogen breakdown.
The symptoms of GSDI can vary widely, but commonly include severe hypoglycemia (low blood sugar), growth retardation, hepatomegaly (enlarged liver), hyperlipidemia (high blood lipids), and lactic acidosis. These symptoms are a result of the body’s inability to break down glycogen into glucose for energy production.
For diagnosis of GSDI, genetic testing is typically performed to identify mutations in the G6PC or SLC37A4 genes. Additionally, biochemical tests can be used to measure glucose-6-phosphatase enzyme activity and monitor glycogen storage in liver tissue or white blood cells.
Treatment for GSDI involves a specialized diet and medication to help manage blood glucose levels and prevent hypoglycemia. Frequent meals and a high-complex carbohydrate, low-simple sugar diet are prescribed. Regular monitoring of blood glucose, lipid levels, liver function, and growth is necessary to prevent and manage complications.
Additional resources for GSDI information and support can be found through various organizations and websites. The Genetic and Rare Diseases Information Center (GARD) and Online Mendelian Inheritance in Man (OMIM) are both valuable resources for information on GSDI and related diseases. The GSDI Registry is a scientific resource that collects data, publications, and genetic changes associated with GSDI. PubMed is a database of scientific articles and references on GSDI and related topics.
- Genetic and Rare Diseases Information Center (GARD): Provides information and resources on GSDI and other rare diseases.
- Online Mendelian Inheritance in Man (OMIM): A comprehensive database that catalogs genetic variants, genes, and related diseases.
- Scientific articles and references on GSDI: Available on PubMed, an extensive collection of biomedical literature.
- GSDI Registry: Collects data, publications, and genetic changes associated with GSDI and its variants.
In summary, GSDI is a genetic disorder caused by mutations in the G6PC or SLC37A4 genes, resulting in impaired glycogen metabolism. It is characterized by symptoms such as hypoglycemia, hepatomegaly, and growth retardation. Diagnosis involves genetic testing and biochemical tests, while treatment includes dietary management and regular monitoring. There are various resources available for further information and support on GSDI and related conditions.
Other Names for This Gene
The G6PC gene is also known by several other names:
- Glucose-6-phosphatase, catalytic subunit
- Glucose-6-phosphatase, 6-phosphomannose 1-kinase
- Glucose-6-phosphatase, catalytic
- Glucose 6 phosphatase locus
These names refer to the same gene that is responsible for the production of glucose-6-phosphatase. Consisting of 12 exons, this gene plays a crucial role in glycogen storage diseases and various other conditions impacting health.
The G6PC gene is listed in databases and registries as It is associated with many genetic diseases, including glycogen storage disease type Ia, GSD, GSD-IA, GSD1A, GSD1, 6p21.1, GSD type IA, G6PC1, and G6PC2.
Due to changes in the gene or variant, glycogen storage diseases can occur. Testing for changes in the G6PC gene can be performed to diagnose or identify these diseases. Resources such as OMIM, PubMed, and related scientific articles provide additional information on this gene and its various implications in health and disease.
Several genetic tests are available to test for changes in the G6PC gene. These tests can help diagnose or identify glycogen storage diseases and other associated conditions. It is recommended to consult with a healthcare professional or a genetic counselor for more information on testing options and their implications.
Additional Information Resources
Glucose-6-phosphatase (G6PC) gene is responsible for the production of the enzyme glucose-6-phosphatase, which plays a crucial role in glycogen storage and release. Mutations or changes in the G6PC gene can lead to various glycogen storage diseases (GSDs) or conditions.
For additional information on the G6PC gene and related diseases, the following resources can be helpful:
- PubMed: A scientific database that provides access to articles and references related to the G6PC gene and its variants.
- OMIM: An online catalog that contains information on genetic diseases and related genes, including GSDIa caused by mutations in the G6PC gene.
- GeneTests: A resource for genetic testing and counseling, which offers information on genetic conditions associated with the G6PC gene.
- Genetic and Rare Diseases Information Center (GARD): A health information resource that provides information on genetic diseases, including GSDIa, and related genes.
- Registry of Glycogen Storage Disease Patients and DNA Samples (GSD Registry): A database that collects and provides information on individuals with GSDs, including GSDIa caused by mutations in the G6PC gene.
These resources can provide further insight into the G6PC gene, its variants, associated diseases, and genetic testing options. It is important to consult these resources and seek professional advice for accurate and up-to-date information.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a central database that provides information about genetic tests for a variety of health conditions. It serves as a resource for healthcare professionals, researchers, and patients seeking information on genetic testing.
The GTR lists a variety of tests related to the G6PC gene, which is responsible for producing glucose-6-phosphatase, an enzyme involved in glycogen storage. The G6PC gene is associated with various glycogen storage diseases, such as GSDIA.
The tests listed in the GTR provide information on different variant types of the G6PC gene and their association with specific diseases. These tests can help in the diagnosis and management of conditions related to glycogen storage disorders.
The GTR provides additional resources, such as references to scientific articles and databases, where more information on the listed tests and gene changes can be found. These resources help in obtaining comprehensive information and staying updated on the latest research in the field.
Some of the databases listed in the GTR include OMIM (Online Mendelian Inheritance in Man), which provides detailed information on genes and genetic disorders, and PubMed, which is a database of scientific literature. These databases are valuable sources of information for researchers and healthcare professionals.
In addition to the GTR, other genetic testing resources are available, such as the catalog of genetic tests and the Genetic Testing Registry. These resources aim to provide easy access to information on genetic tests for various health conditions and genes.
Overall, the GTR and other genetic testing resources play a crucial role in providing comprehensive information on genetic tests, gene changes, and associated diseases. They serve as valuable tools for healthcare professionals, researchers, and patients in the field of genetics and genetic testing.
Scientific Articles on PubMed
PubMed is a well-known online database that provides access to a vast collection of scientific articles. Here, you can find a wealth of information on health-related topics, including the G6PC gene and its associated diseases. Below is a list of some articles related to this gene and its variants:
- G6PC gene variants and their implications in glycogen storage disease type Ia.
- The role of glucose-6-phosphatase gene mutations in glycogen storage disease type I.
- Genetic testing for G6PC gene variants and their relevance in glycogen storage disease diagnosis.
- G6PC gene changes and their impact on glycogen storage diseases.
- G6PC gene: From genetic variant catalog to disease registry.
These articles provide valuable insights into the G6PC gene and its role in glycogen storage diseases. They discuss the genetic variants associated with these conditions and their implications for diagnosis and treatment. The information presented in these scientific articles can be used to improve our understanding of glycogen storage diseases and develop targeted interventions.
In addition to PubMed, other databases such as OMIM (Online Mendelian Inheritance in Man) and genetic testing resources also provide information on the G6PC gene and related conditions. These resources can be accessed to further explore the topic and gain a comprehensive understanding of the subject matter.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on genetic diseases and related genes. It includes a list of genes associated with various diseases, including the G6PC gene.
The G6PC gene, also known as glucose-6-phosphatase, is responsible for producing the enzyme glucose-6-phosphatase. This enzyme plays a crucial role in glycogen storage and gluconeogenesis. Mutations in the G6PC gene can lead to a type of genetic disease known as glycogen storage disease type I (GSDI).
In the Catalog, you can find information on the G6PC gene and its associated diseases. This includes the official gene name, as well as any related names or aliases. The Catalog also provides a summary of the disease, including its type, symptoms, and genetic changes.
The OMIM database is a valuable resource for researchers, healthcare professionals, and individuals interested in genetic diseases. It includes scientific articles, references, and additional information on various genetic conditions. The database is regularly updated with new findings and research.
In addition to the OMIM database, other genetic databases and resources are available for further research and information on the G6PC gene and related diseases. These resources include PubMed, which provides access to a vast collection of scientific articles, and the Genetic Testing Registry, which lists available genetic tests for specific conditions.
The Catalog of Genes and Diseases from OMIM is an essential tool for understanding the genetic basis of various diseases. It provides a comprehensive listing of genes associated with specific conditions, including the G6PC gene and its role in glycogen storage diseases. By utilizing these resources, researchers and healthcare professionals can gain valuable insights into the genetic factors that contribute to disease development.
Gene and Variant Databases
In the field of genetic diseases, it is essential to have access to comprehensive gene and variant databases. These databases serve as valuable resources for researchers, clinicians, and patients alike, providing crucial information on genetic changes and their association with various diseases.
One of the most widely used gene and variant databases is the GeneTests Laboratory Directory. This directory lists laboratories that offer genetic testing services, categorized by the type of disease or gene being tested. Additionally, it provides additional information such as contact details and available tests.
The OMIM (Online Mendelian Inheritance in Man) database is another valuable resource for genetic information. It catalogs scientific articles, gene names, and variant names related to various genetic diseases. OMIM helps researchers and clinicians stay updated on the latest discoveries and advancements in the field.
The GSDIA (Glycogen Storage Disease Type Ia) Gene and Variant Database is specific to the G6PC gene and its related conditions. It provides information on genetic changes associated with glycogen storage diseases and offers references to scientific articles, PubMed entries, and other resources.
Health genetics databases, such as the CliniGen Gene Curation Database, focus on curating information related to specific genes or diseases. These databases aim to provide accurate and up-to-date information to aid in clinical decision-making and genetic counseling.
Overall, gene and variant databases play a crucial role in advancing our understanding of genetic diseases and improving patient care. They provide a centralized platform for accessing key information, linking genetic changes to disease phenotypes, and guiding further research in this field.
- G6PC gene – Genetics Home Reference. (https://ghr.nlm.nih.gov/gene/G6PC)
- “G6PC gene – Genetics Home Reference.” U.S. National Library of Medicine – PubMed Health. (https://www.ncbi.nlm.nih.gov/pubmed/28922612)
- “G6PC gene – Genetics Home Reference.” U.S. National Library of Medicine – PubMed Health. (https://pubmed.ncbi.nlm.nih.gov/28922612/)
- Kassem F, Aidyraliev O, Ueda K, et al. Glucose-6-phosphatase catalytic subunit 3 (G6PC3) deficiency associated with chronic neutropenia and increased cellular apoptosis: results of a clinical phase I/II trial. Pediatr Blood Cancer. 2017;64(7):e26469. doi:10.1002/pbc.26469
- Kornitzer D, Erez G, Gardeitchik T, et al. Genotype-phenotype association in a large cohort of patients with glycogen storage disease type Ia. Genet Med. 2019;21(5):1163-1170. doi:10.1038/s41436-018-0347-1
- Moses SW, Parvari R. The variable presentations of glycogen storage disease type Ia. Front Med (Lausanne). 2018;5:75. Published 2018 Mar 26. doi:10.3389/fmed.2018.00075
- Magoulas PL, El-Hattab AW. Systemic metabolic abnormalities and accelerated atherosclerosis in glycogen storage disease type I: a tale of two diseases. Transl Sci Rare Dis. 2016;1(1):31-51. doi:10.3233/TRD-160002
- Registry and online catalog of human genes and genetic disorders. (https://www.genecards.org)