Lysosomal alpha-glucosidase
Function
Essential for the degradation of glycogen in lysosomes (PubMed:14695532, PubMed:18429042, PubMed:1856189, PubMed:7717400). Has highest activity on alpha-1,4-linked glycosidic linkages, but can also hydrolyze alpha-1,6-linked glucans (PubMed:29061980).
Involvement in disease
Pompe disease, infantile-onset
IOPD
An early-onset form of Pompe disease, an autosomal recessive lysosomal storage disease characterized by lysosomal alpha-glucosidase deficiency, a broad clinical spectrum and age at onset ranging from infancy to adulthood. The classic early-onset form of IOPD presents at birth with massive accumulation of glycogen in muscle, heart and liver. Cardiomyopathy and muscular hypotonia are the cardinal features of this form whose life expectancy is less than two years. A milder infantile form manifests as progressive muscular disorder of childhood and patients have better prognosis.
None
The disease is caused by variants affecting the gene represented in this entry.
Pompe disease, late-onset
LOPD
A late-onset form of Pompe disease, an autosomal recessive lysosomal storage disease characterized by lysosomal alpha-glucosidase deficiency, a broad clinical spectrum and age at onset ranging from infancy to adulthood. LOPD includes juvenile and adult forms and manifests as limb-girdle muscular dystrophy beginning in the lower limbs. Final outcome depends on respiratory muscle failure. Patients with the adult form can be free of clinical symptoms for most of their life but finally develop a slowly progressive myopathy.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
The different forms of acid glucosidase are obtained by proteolytic processing.
Phosphorylation of mannose residues ensures efficient transport of the enzyme to the lysosomes via the mannose 6-phosphate receptor.
Sequence Similarities
Belongs to the glycosyl hydrolase 31 family.
Cellular localization
- Lysosome
- Lysosome membrane
Alternative names
Lysosomal alpha-glucosidase, Acid maltase, Aglucosidase alfa, GAA