Fabry Disease 2011

Phenotype

Symptoms

As the effects caused by the enzymatic disfunction summarize over time, the symptoms evolve progressive.

Childhood

• Pain and burning in the hands and feet
• Impaired sweating
• Psychological and social issues
• Low tolerance for exercise
• Eye abnormalities

Adolescence

• Dark red skin rashes (angiokeratomas)
• Fatigue
• Gastrointestinal problems

Adulthood

• Heart problems
• Kidney problems
• Nervous system problems
• Hearing problems

Cross-references

See also description of this disease in

• Wikipedia
• HGMD
• OMIM:Fabry Disease
• OMIM:ALPHA-GALACTOSIDASE A
• PubMed
• NINDS
• GHR
• NCBI Bookshelf

... (see databases in "resources")

α-galactosidase A

The location of the gene GLA on the X chromosome.

Gene

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).

Cross-references

• NCBI: GLA
• OMIM: GLA
• Genetics Home Reference: GLA

Protein

Cross-references

• MetaCyc: α-Galactosidase A
• PDB: 1R46
• PDB: 1R47

Biochemical disease mechanism

Glycosphingolipid biosynthesis of Homo sapiens. The disease associated enzyme is highlighted in red.

The hydrolysation of globotriaosylceramide (GL3) to lactosylceramide (GL2) and galactose is catalyzed by the protein α-galactosidase A.

Cross-references

• KEGG: Fabry Disease
• KEGG: Glycosphingolipid biosynthesis

Mutations

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.

Reference sequence

• Nucleotide sequence
• Amino acid sequence