" /> GAA wt Allele - CISMeF





Preferred Label : GAA wt Allele;

NCIt synonyms : Alpha-Glucosidase, Acid Gene; LYAG; Pompe Disease Gene; Alpha-1,4-Glucosidase Gene; Glucosidase, Alpha, Acid Gene; Alpha Glucosidase wt Allele; Glucosidase Alpha, Acid Gene; Acid Alpha-Glucosidase Gene; Glycogen Storage Disease Type II Gene;

NCIt definition : Human GAA wild-type allele is located in the vicinity of 17q25.3 and is approximately 18 kb in length. This allele, which encodes lysosomal alpha-glucosidase protein, plays a role in the lysosomal degradation of glycogen. Mutations in the gene are associated with glycogen storage disease 2 (Pompe disease).;

GenBank Accession Number : NM_000152;

Détails


Position du mot-clé dans l'(les) arborescence(s) : arborescence

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29/07/2025


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