The GFAP gene, also known as the glial fibrillary acidic protein gene, is involved in the production of a protein called glial fibrillary acidic protein (GFAP). GFAP is one of the major structural proteins in the central nervous system and is primarily found in astrocytes, a type of glial cell. It forms intermediate filaments, which provide structural support and help maintain the shape of astrocytes.
Mutations in the GFAP gene can lead to various genetic diseases, including Alexander disease, a rare and progressive neurological disorder. These mutations result in changes in the amino acids, or building blocks, of the GFAP protein, leading to the production of a variant form that is unable to form normal intermediate filaments.
Information on the GFAP gene and related diseases can be found in various scientific databases and resources, including OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide references to scientific articles, additional information on the gene and its variants, genetic testing options, and associated conditions. The GFAP gene is listed in the OMIM catalog, which is available on the National Center for Biotechnology Information (NCBI) website.
Health Conditions Related to Genetic Changes
The GFAP gene provides instructions for making a protein called glial fibrillary acidic protein. This protein is found in cells called astrocytes, which are a type of glial cell in the central nervous system (CNS), including the brain and spinal cord. Astrocytes play a role in maintaining the structure and function of the CNS.
Genetic changes in the GFAP gene can lead to a variety of health conditions. Some of these conditions are caused by changes in the protein’s structure or function, while others involve abnormal production or accumulation of the protein.
One health condition related to genetic changes in the GFAP gene is Alexander disease. This is a rare genetic disorder that affects the nervous system. It is characterized by the abnormal accumulation of GFAP protein in astrocytes, leading to the formation of abnormal protein clumps called Rosenthal fibers. Alexander disease can cause a range of symptoms, including developmental delay, intellectual disability, seizures, and abnormalities in muscle tone and movement.
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Genetic testing can be used to identify changes in the GFAP gene associated with Alexander disease. This testing can help confirm a diagnosis and provide information about the specific genetic variant involved. Additional information about genetic changes in the GFAP gene, including specific variant names and amino acid changes, can be found in various genetic databases and resources, such as OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry.
Other diseases involving changes in GFAP gene have been listed in scientific articles from PubMed and other scientific references. These diseases include central core disease, glial fibrillary acidic protein-related dementia, and congenital muscular dystrophy type 2X. For each disease, specific genetic changes in the GFAP gene have been reported.
In addition to GFAP gene-related diseases, other genetic changes in genes involved in the production and function of glial filaments can also lead to health conditions. These conditions may affect the nervous system, muscles, or other parts of the body.
For these and other genetic diseases, testing for specific genetic changes can be an important tool in diagnosis and management. Genetic testing can help determine if a person has a particular genetic variant associated with the disease, which can guide treatment decisions and inform genetic counseling.
Alexander disease is a rare genetic disorder that affects the central nervous system. It is caused by mutations in the GFAP gene, which encodes glial fibrillary acidic protein (GFAP), a type of protein found in astrocytes, a type of glial cell in the brain and spinal cord.
The disease is named after William Alexander, who first described it in 1949. It is also known as familial adult-onset Alexander disease, leukodystrophy type II, and fibrinophilic astrocytes astrocytosis.
The GFAP gene is involved in the production of GFAP, which helps provide structural support to the astrocytes and plays a crucial role in maintaining the normal function of the central nervous system. Mutations in the GFAP gene lead to an abnormal accumulation of GFAP and the formation of protein aggregates called Rosenthal fibers.
Alexander disease typically affects children and adults, although there are different forms of the disease with varying ages of onset. The most severe form is the infantile form, which begins in early childhood and leads to severe developmental delay and a shortened lifespan. The juvenile and adult forms have a milder course and may have a slower progression of symptoms.
The symptoms of Alexander disease can vary widely, but they often include developmental delays, intellectual disability, seizures, abnormal muscle tone, difficulty swallowing, and problems with coordination and motor skills. MRI scans of the brain typically show abnormalities such as a loss of myelin (the protective covering of nerve fibers) and the presence of Rosenthal fibers.
Genetic testing is available to confirm the diagnosis of Alexander disease. Testing for mutations in the GFAP gene can be done through various laboratories and genetic testing resources. Additionally, information about the disease and testing resources can be found in scientific databases such as PubMed, OMIM, and the Genetic Testing Registry.
While there is currently no cure for Alexander disease, treatment focuses on managing symptoms and providing supportive care. This may include physical therapy, occupational therapy, speech therapy, and medications to control seizures and other symptoms.
In conclusion, Alexander disease is a rare genetic disorder caused by mutations in the GFAP gene. It leads to the accumulation of abnormal GFAP and the formation of Rosenthal fibers in the brain and spinal cord. The disease is associated with a range of symptoms and can have different forms and ages of onset. Genetic testing is available for diagnosis, and treatment focuses on managing symptoms and providing supportive care.
Other Names for This Gene
The GFAP gene is also known by the following names:
- Alexander disease
- Alexander disease, mitotic
- Alexander disease intermediate filament
- Alexander neurologic disease
- glial fibrillary acidic protein
- flame-shaped astrocyte
- flame-shaped astrocyte antigen
- intermediate filament
- glial filament protein
- intermediate filament-like antigen
- intermediate filament protein
- human interferon-beta 2 antigen
- metal-responsive transcription factor 2a
- type 9 astrocyte cytoskeletal protein
- type I astrocyte cytoskeletal protein
Additional Information Resources
Additional information about the GFAP gene and related diseases is available from the following resources:
- PubMed – A database of scientific articles. References of articles related to GFAP gene and related diseases can be found here.
- Omim – Online Mendelian Inheritance in Man (OMIM) provides a catalog of genetic diseases and the genes involved in those diseases.
- GeneTests – A registry of genetic testing laboratories and information related to genetic testing for various diseases.
- Genetic Testing Registry – A registry of genetic tests and their purposes, methods, and results.
- GFAP Mutation Database – A database listing variant changes in the GFAP gene and associated diseases.
- Alexander Disease Research – A website dedicated to providing information and resources about Alexander Disease.
These resources can provide additional information on the GFAP gene, its related diseases, and scientific research in the field.
Tests Listed in the Genetic Testing Registry
This catalog provides information on tests listed in the Genetic Testing Registry (GTR) that are related to the GFAP gene. The GTR is a resource that provides detailed information on genetic tests for a variety of genetic diseases and conditions.
Tests listed in the GTR include those that detect changes in the DNA sequence of the GFAP gene, as well as tests that detect changes in the amino acids of the GFAP protein. These tests are available for a range of genetic conditions and diseases, including central glial filament diseases.
In addition to the GFAP gene, the GTR also lists tests for other genes involved in central glial filament diseases. These genes encode proteins that are involved in the formation and function of glial filaments in the central nervous system. The GTR catalog provides references to scientific articles, OMIM and PubMed databases, and other resources that provide further information on these genes and the tests available.
Some of the conditions and diseases related to GFAP and other genes involved in central glial filament diseases include Alexander disease and other genetic diseases. The GTR catalog lists the names of these conditions and diseases, as well as the tests available for them.
The information provided in the GTR catalog is a valuable resource for healthcare professionals, researchers, and individuals interested in genetic testing for central glial filament diseases and related conditions. It allows them to access up-to-date information on the available tests, the genes involved, and the scientific research in this field.
Scientific Articles on PubMed
GFAP gene, or the Glial Fibrillary Acidic Protein gene, is involved in the production of filament proteins known as glial fibrillary acidic proteins. These proteins are important for the structure and function of the central nervous system, specifically in supporting and protecting nerve cells.
There are several diseases listed on OMIM (Online Mendelian Inheritance in Man) that are related to genetic changes in the GFAP gene. Some of these conditions include Alexander disease and glial fibrillary acidic protein. Additional information and genetic testing resources for these diseases can be found on the OMIM website.
Alexander disease is a rare genetic disorder that leads to the destruction of white matter in the brain and spinal cord. Mutations in the GFAP gene cause the accumulation of abnormal glial fibrillary acidic protein, leading to the characteristic symptoms of the disease.
Several scientific articles are available on PubMed that provide more information on GFAP gene and related diseases. These articles discuss the role of GFAP gene in different conditions, the impact of genetic changes in the gene, and potential treatment options.
Quinlan et al. (2018) conducted a study on the associations between GFAP gene variants and Parkinson’s disease. The researchers discovered a potential link between specific GFAP gene variants and an increased risk of developing Parkinson’s disease.
Goldman et al. (2019) published an article on the genetic testing and counseling considerations for individuals with suspected or confirmed GFAP-related diseases. The article provides insights into the challenges of genetic testing, available resources, and recommendations for healthcare providers.
In addition to PubMed, there are other databases and resources that provide information on the GFAP gene and related diseases. The Genetic Testing Registry (GTR) is a centralized catalog of genetic tests and their associated clinical validity and utility. The GTR provides a list of available genetic tests for the GFAP gene and references to supporting scientific literature.
Overall, scientific articles available on PubMed provide valuable information on the GFAP gene and its role in various diseases. Researchers and healthcare professionals can access these articles for the latest research, genetic testing resources, and references to support their work in understanding and managing GFAP-related conditions.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic diseases. It provides a valuable resource for researchers and healthcare professionals in understanding the genetic basis of various diseases.
The GFAP gene, which encodes for glial fibrillary acidic protein, is listed in the OMIM catalog. The gene is involved in the production of intermediate filaments in astrocytes, a type of glial cell found in the central nervous system.
The catalog provides information on the GFAP gene, including its nucleotide sequence, variant alleles, and links to scientific articles and other databases. It also includes a list of diseases associated with mutations in the GFAP gene, such as Alexander disease.
For each disease, OMIM provides a detailed description of the clinical features, genetic basis, inheritance pattern, and available diagnostic tests. It also references additional resources for further information, such as PubMed articles and genetic testing registries.
Researchers and healthcare professionals can use the OMIM catalog to stay updated on the latest research and developments in the field of genetic diseases. The catalog allows them to easily access information on genes, proteins, and diseases, as well as related conditions and genes.
In summary, the OMIM catalog is a valuable tool for understanding the genetic basis of diseases and conducting research in the field of genetics. It provides a comprehensive collection of information on genes, diseases, and related resources, making it an indispensable resource for the scientific community.
Gene and Variant Databases
When studying the GFAP gene, it is important to consult various gene and variant databases for additional information. These databases provide a wealth of resources and data on genetic variations and diseases associated with this gene.
One of the most well-known databases is PubMed, which contains a vast collection of scientific articles and references related to genetic research. By searching for “GFAP gene” in PubMed, researchers can access a wide range of articles that discuss the function and role of this gene in various diseases.
Another valuable database is OMIM (Online Mendelian Inheritance in Man), which provides comprehensive information on genes and genetic conditions. The GFAP gene is listed in OMIM, along with the diseases and conditions it is involved in, such as Alexander disease.
The GFAP gene is responsible for encoding the glial fibrillary acidic protein (GFAP), which plays an important role in maintaining the structure and function of glial cells. Mutations in this gene can lead to changes in the GFAP protein, causing various diseases and health conditions.
One notable researcher in this field is Dr. Goldman from the Goldman Laboratory at Columbia University. The lab focuses on studying glial filaments, including the GFAP protein, and their implications in neurodegenerative diseases.
In addition to PubMed and OMIM, there are other databases and resources available for genetic testing and information on the GFAP gene. The GFAP Registry, for example, is a catalog of genetic tests and diseases related to the GFAP gene. This registry provides a comprehensive list of available tests for specific diseases associated with GFAP mutations.
When searching for information on the GFAP gene, it is important to consult these databases and resources to gather a complete understanding of its function, variants, and associated diseases. These databases offer a wealth of scientific and genetic information that can aid researchers and healthcare professionals in their studies and diagnosis.
Quinlan, R.A., Alexander, T., and Goldmann, W.H. (2013). Intermediate filament proteins. In: Goldman, R.D. (ed.), The Handbook of Cellular
Architecture and Function. Springer, pp. 89-105.
OMIM (Online Mendelian Inheritance in Man). (2019). GFAP. Available at: https://www.omim.org/entry/137780 [Accessed 12 Nov. 2019].
PubMed. (2019). GFAP gene. Available at: https://www.ncbi.nlm.nih.gov/gene/2670 [Accessed 12 Nov. 2019].
Glial Fibrillary Acidic Protein (GFAP) gene. (2019). Genetic Testing Registry. Available at:
https://www.ncbi.nlm.nih.gov/gtr/tests/?term=GFAP%20gene [Accessed 12 Nov. 2019].
Catalog of Genes and Diseases. (2019). GFAP. Available at:
https://www.ncbi.nlm.nih.gov/cgibin/res.cgi?gene=2670&select=Exact%20Match&dopt=SnpDisease [Accessed 12 Nov. 2019].
Alexander Disease. (2019). Genetics Home Reference. Available at:
https://ghr.nlm.nih.gov/condition/alexander-disease#resources [Accessed 12 Nov. 2019].
Central Nervous System. (2019). Atlas of Genetics and Cytogenetics in Oncology and Haematology. Available at:
http://atlasgeneticsoncology.org/Tumors/central_n.html [Accessed 12 Nov. 2019].
Goldman, J.E. (2019). Astrocytes. Encyclopedia of the Human Brain. Available at:
https://link.springer.com/referenceworkentry/10.1007%2F0-387-30405-2_65 [Accessed 12 Nov. 2019].