5nn3 | pdb_00005nn3
From Proteopedia
Crystal structure of human lysosomal acid-alpha-glucosidase, GAA
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Structural highlights
Disease[LYAG_HUMAN] Glycogen storage disease due to acid maltase deficiency, infantile onset;Glycogen storage disease due to acid maltase deficiency, juvenile onset;Glycogen storage disease due to acid maltase deficiency, adult onset. The disease is caused by mutations affecting the gene represented in this entry. Function[LYAG_HUMAN] Essential for the degradation of glygogen to glucose in lysosomes. Contents | ||||||||||||||||||||||
This page was last modified 07:12, 25 October 2017.