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Glycosylasparaginase (AGA), a Threonine T1 protease, is a lysosomal enzyme that hydrolyzes N-linked oligosaccharides of glycoproteins. Inactivating mutations of AGA cause massive accumulation of aspartylglucosamine and lysosomal hypertrophy in the central nervous system, leading to Aspartylglycosaminuria (AGU). AGU is an autosomal recessive disease, characterized by decreased cognitive abilities, skeletal abnormalities, and facial grotesqueness (Aronson NN Jr., 1999).
Gene Name: | aspartylglucosaminidase |
Family/Subfamily: | Protease , Threonine T1 |
Synonyms: | AGA, AGU, Aspartylglucosaminidase, ASRG, GA, Glycosylasparaginase |
Target Sequences: | NM_000027 |
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