Gene Name/Protein Name
Alexander Syndrome is caused by a de novo (spontaneous) mutation in a gene called GFAP [1]. The GFAP gene codes for a protein called glial fibrillary acidic protein [2]. GFAP is a 432 amino acid protein that has a molecular weight of 55kDa and consists of 9 exons [2].
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Normal Function of GFAP
The GFAP gene encodes for the protein glial fibrillary acidic protein. Glial fibrillary acidic proteins are intermediate filaments found in astroglial cells [3]. Astroglial cells are important to the stability and maintenance of cells in the brain and spinal cord [3]. Normally when spinal cord cells or brain cells are damaged, astroglial cells repair the damaged cells by overproduction of glial fibrillary acidic protein [3].
- ^ Rodriguez, Diana; Gauthier, Fernande; Bertini, Enrico; Bugiani, Marianna; Brenner, Michael; N'guyen, Sylvie; Goizet, Cyril; Gelot, Antoinette; Surtees, Robert (2001-11-01). "Infantile Alexander Disease: Spectrum of GFAP Mutations and Genotype-Phenotype Correlation". The American Journal of Human Genetics. 69 (5): 1134–1140. doi:10.1086/323799. PMC 1274357. PMID 11567214.
- ^ a b Nielsen, Anders Lade; Holm, Ida E.; Johansen, Marianne; Bonven, Bjarne; Jørgensen, Poul; Jørgensen, Arne Lund (2002-08-16). "A New Splice Variant of Glial Fibrillary Acidic Protein, GFAPε, Interacts with the Presenilin Proteins". Journal of Biological Chemistry. 277 (33): 29983–29991. doi:10.1074/jbc.M112121200. ISSN 0021-9258. PMID 12058025.
{{cite journal}}: CS1 maint: unflagged free DOI (link) - ^ a b c Reference, Genetics Home. "GFAP gene". Genetics Home Reference. Retrieved 2016-11-30.