DISEASES

Disease-gene associations mined from literature

Literature associating GAA and carbohydrate metabolic disorder

GAA [ENSP00000305692]

70 kDa lysosomal alpha-glucosidase; Essential for the degradation of glycogen in lysosomes . Has highest activity on alpha-1,4-linked glycosidic linkages, but can also hydrolyze alpha-1,6-linked glucans . ECO:0000269|PubMed:1856189, ECO:0000269|PubMed:29061980,

Synonyms:  GAA,  I3L0S5,  I3L2V9,  I3L3L3,  P10253 ...

Linkouts:  STRING  Pharos  UniProt  OMIM