Fabry Disease 2011
As the effects caused by the enzymatic disfunction summarize over time, the symptoms evolve progressive.
- Pain and burning in the hands and feet
- Impaired sweating
- Psychological and social issues
- Low tolerance for exercise
- Eye abnormalities
- Dark red skin rashes (angiokeratomas)
- Gastrointestinal problems
- Heart problems
- Kidney problems
- Nervous system problems
- Hearing problems
See also description of this disease in
... (see databases in "resources")
The protein α-galactosidase A is encoded by the gene GLA, which is locacted on the X chromosome (gene map locus: Xq22). The gene has an overall length of 10,222 nucleotides and consist of 7 exons (1,290 nucleotides) and 6 introns (8,932 nucleotides).
α-galactosidase A is a homodimeric protein that consist of 398 amino acids. It is a glycosidase (EC number: 18.104.22.168) and hydrolyses O- and S-glycosidic bonds of glycolipids.
Biochemical disease mechanism
Current knowledge about mutations associated with the disease. - Separate into disease causing and neutral mutations. -- These sequence pages will be the starting point for collecting prediction results and result discussions.