Sandbox GGC14

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Function

Disease

Defects in human a-GAL lead to Fabry disease, a lysosomal storage disorder characterized by the buildup of a-galactosylated substrates in the tissues. It is an X-linked inherited disorder affecting 1 in every 40,000 males characterized by chronic pain, vascular degeneration, cardiac abnormalities, and other symptoms. The disease displays distinct phenotypes correlated with the amount of residual enzymatic activity: a severe form affecting multiple organ systems including the eyes, liver, kidney, and heart; and a milder phenotype with symptoms restricted to cardiac and/or renal abnormalities. The severe phenotype generally results from a complete loss of enzymatic activity in affected individuals, whereas patients with milder phenotypes typically show some residual enzyme activity. The data base of independent Fabry disease mutations now numbers in the hundreds, from thousands of patients. Most Fabry disease patients have a single point mutation in their GLA gene coding for a-GAL, and over 400 missense and nonsense mutations have been identified in different patients. Fabry disease is a lysosomal storage disorder, a family of over 40 diseases characterized by the accumulation of a substrate in the absence of a functional lysosomal enzyme. The family includes inherited diseases such as Tay-Sachs, Sandhoff, and Gaucher diseases.

Relevance

Structural highlights

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