Reviewed November 2008
What is the official name of the GFAP gene?
The official name of this gene is “glial fibrillary acidic protein.”
GFAP is the gene's official symbol. The GFAP gene is also known by other names, listed below.
What is the normal function of the GFAP gene?
The GFAP gene provides instructions for making a protein called glial fibrillary acidic protein. This protein is a member of the intermediate filament family of proteins. Intermediate filaments form networks that provide support and strength to cells. Several molecules of glial fibrillary acidic protein bind together to form the type of intermediate filament found in astroglial cells. Astroglial cells support and nourish cells in the brain and spinal cord. If brain or spinal cord cells are injured through trauma or disease, astroglial cells react by rapidly producing more glial fibrillary acidic protein.
Although its function is not fully understood, glial fibrillary acidic protein is probably involved in controlling the shape, movement, and function of astroglial cells. Some researchers have suggested that astroglial cells play an important role in the functioning of other cells, including specialized cells that surround nerves (oligodendrocytes) and are involved in the production and long-term maintenance of myelin. Myelin is the fatty substance that forms a protective coating around certain nerve cells and ensures the rapid transmission of nerve impulses. Additionally, astroglial cells may assist in maintaining the protective barrier that allows only certain substances to pass between blood vessels and the brain (the blood-brain barrier).
How are changes in the GFAP gene related to health conditions?
- Alexander disease - caused by mutations in the GFAP gene
Researchers have identified more than 50 GFAP mutations that cause Alexander disease. Most of these mutations change one of the building blocks (amino acids) used to make glial fibrillary acidic protein. A few mutations add or remove two amino acids in the protein. All of these changes alter the structure of glial fibrillary acidic protein. The altered protein probably disturbs the formation of normal intermediate filaments. As a result, the abnormal glial fibrillary acidic protein may accumulate in astroglial cells, contributing to the formation of Rosenthal fibers, which impair cell function. It is not well understood how impaired astroglial cells contribute to the abnormal maintenance of myelin, causing the signs and symptoms of Alexander disease.
Where is the GFAP gene located?
Cytogenetic Location: 17q21
Molecular Location on chromosome 17: base pairs 44,905,626 to 44,915,552
(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (http://www.ncbi.nlm.nih.gov/gene/2670))
The GFAP gene is located on the long (q) arm of chromosome 17 at position 21.
More precisely, the GFAP gene is located from base pair 44,905,626 to base pair 44,915,552 on chromosome 17.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
Where can I find additional information about GFAP?
You and your healthcare professional may find the following resources about GFAP helpful.
Educational resources - Information pages
- Basic Neurochemistry (sixth edition, 1999): Intermediate Filament (IF) Proteins of the Nervous System (http://www.ncbi.nlm.nih.gov/books/NBK28122/?rendertype=table&id=A578)
- Basic Neurochemistry (sixth edition, 1999): Neuronal and glial intermediate filaments provide support for neuronal and glial morphology (http://www.ncbi.nlm.nih.gov/books/NBK28122/)
- Basic Neurochemistry (sixth edition, 1999): The human leukodystrophies are inherited disorders affecting central nervous system white matter (http://www.ncbi.nlm.nih.gov/books/NBK28211/)
- The Waisman Center (http://www.waisman.wisc.edu/alexander-disease/)
- Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK1172)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for GFAP (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2670%5Bgeneid%5D)
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=%28%28GFAP%5BTIAB%5D%29%20OR%20%28glial%20fibrillary%20acidic%20protein%5BTIAB%5D%29%29%20AND%20%28glial%20fibrillary%20acidic%20protein%5BMAJR%5D%29%20AND%20%28%28Genes%5BMH%5D%29%20OR%20%28Genetic%20Phenomena%5BMH%5D%29%29%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%201800%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/137780)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_GFAP.html)
- HGNC Gene Family: Intermediate filaments Type III (http://www.genenames.org/cgi-bin/genefamilies/set/610)
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=4235)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/2670)
What other names do people use for the GFAP gene or gene products?
- Glial Intermediate Filament Protein
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding GFAP?
blood-brain barrier ;
intermediate filaments ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Der Perng M, Su M, Wen SF, Li R, Gibbon T, Prescott AR, Brenner M, Quinlan RA. The Alexander disease-causing glial fibrillary acidic protein mutant, R416W, accumulates into Rosenthal fibers by a pathway that involves filament aggregation and the association of alpha B-crystallin and HSP27. Am J Hum Genet. 2006 Aug;79(2):197-213. Epub 2006 Jun 12. (http://www.ncbi.nlm.nih.gov/pubmed/16826512?dopt=Abstract)
- Gene Review: Alexander Disease (http://www.ncbi.nlm.nih.gov/books/NBK1172)
- Li R, Johnson AB, Salomons G, Goldman JE, Naidu S, Quinlan R, Cree B, Ruyle SZ, Banwell B, D'Hooghe M, Siebert JR, Rolf CM, Cox H, Reddy A, Gutiérrez-Solana LG, Collins A, Weller RO, Messing A, van der Knaap MS, Brenner M. Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease. Ann Neurol. 2005 Mar;57(3):310-26. (http://www.ncbi.nlm.nih.gov/pubmed/15732097?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/2670)
- Omary MB, Coulombe PA, McLean WH. Intermediate filament proteins and their associated diseases. N Engl J Med. 2004 Nov 11;351(20):2087-100. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15537907?dopt=Abstract)
- Quinlan RA, Brenner M, Goldman JE, Messing A. GFAP and its role in Alexander disease. Exp Cell Res. 2007 Jun 10;313(10):2077-87. Epub 2007 Apr 6. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17498694?dopt=Abstract)
- Wippold FJ 2nd, Perry A, Lennerz J. Neuropathology for the neuroradiologist: Rosenthal fibers. AJNR Am J Neuroradiol. 2006 May;27(5):958-61. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16687524?dopt=Abstract)
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.