Acid alpha-glucosidase
Encyclopedia
Lysosomal alpha-glucosidase is an enzyme
that in humans is encoded by the GAA gene
. Errors in this gene cause glycogen storage disease type II
(Pompe disease).
Enzyme
Enzymes are proteins that catalyze chemical reactions. In enzymatic reactions, the molecules at the beginning of the process, called substrates, are converted into different molecules, called products. Almost all chemical reactions in a biological cell need enzymes in order to occur at rates...
that in humans is encoded by the GAA gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
. Errors in this gene cause glycogen storage disease type II
Glycogen storage disease type II
Glycogen storage disease type II is an autosomal recessive metabolic disorder which damages muscle and nerve cells throughout the body. It is caused by an accumulation of glycogen in the lysosome due to deficiency of the lysosomal acid alpha-glucosidase enzyme...
(Pompe disease).