Lysosomal α-glucosidase (GAA), a glycoprotein and member of glycoside hydrolase family GH31, comprises a trefoil type-P domain, catalytic GH31 domain, distal, proximal, and an N-terminal β-sheet domain. The GAA gene is mapped to human chromosome 17q25.3. It undergoes various proteolytical and N-glycan processing in the late endosomal/lysosomal compartment to become an active form.
Immunogen
GAA (AAH40431, 851 a.a. ~ 952 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.
Lysosomal α-glucosidase (GAA) uses mannose-6-phosphate receptors for its localization on the lysosomes. It mediates the hydrolysis of glycogen to glucose. Mutations in the GAA gene impair acid alpha-glucosidase enzyme activity. Deficiency of GAA leads to a rare lysosomal storage disease namely Pompe disease.
Physical form
Solution in phosphate buffered saline, pH 7.4
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Iranian journal of medical sciences, 43(2), 218-222 (2018-05-12)
Pompe disease (PD), also known as "glycogen storage disease type II (OMIM # 232300)" is a rare autosomal recessive disorder characterized by progressive glycogen accumulation in cellular lysosomes. It ultimately leads to cellular damage. Infantile-onset Pompe disease (IOPD) is the
Lysosomal acid alpha-glucosidase consists of four different peptides processed from a single chain precursor.
Moreland, et al.
The Journal of Biological Chemistry, 280, 6780-6791 (2021)
Pompe disease, a rare lysosomal storage disease caused by deficiency of the lysosomal acid α-glucosidase (GAA), is characterized by glycogen accumulation, triggering severe secondary cellular damage and resulting in progressive motor handicap and premature death. Numerous disease-causing mutations in the
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