User:Gmk625

Gene Name/Protein Name

Alexander Syndrome is caused by a de novo (spontaneous) mutation in a gene called GFAP. The GFAP gene codes for a protein called glial fibrillary acidic protein. GFAP is a 432 amino acid protein that has a molecular weight of 55kDa and consists of 9 exons. 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. Astroglial cells are important to the stability and maintenance of cells in the brain and spinal cord. Normally when spinal cord cells or brain cells are damaged, astroglial cells repair the damaged cells by overproduction of glial fibrillary acidic protein.