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Fabry disease is caused by mutations in the GLA gene. This gene provides instructions for making an enzyme called alpha-galactosidase A. This enzyme is active in lysosomes, which are structures that serve as recycling centers within cells.he progressive accumulation of this substance damages cells, leading to the varied signs and symptoms of Fabry disease. GLA gene mutations that result in an absence of alpha-galactosidase A activity lead to the classic, severe form of Fabry disease.
Genes are found on structures in the cells of the body called chromosomes. Each cell normally contains 46 total, or 23 pairs of chromosomes. The seventh pair of chromosomes contains a gene called the cystic fibrosis transmembrane regulator (CFTR) gene.Mutations or errors in this gene are what cause CF.This gene is quite large and complex.ore than 1,800 different mutations in this gene have been found that cause CF. According to the Cystic Fibrosis Foundation, the risk for having a mutation in the gene for CF depends on your ethnic background if you have no family history of CF: Ethnic Background. Risk of CF Mutation.