full name
glucosidase alpha, acid

synonyms
LYAG, GAA, ENSG00000171298

HGNC
HGNC:4065

Entrez Gene
Gene:2548

ENSEMBL
ENSG00000171298

location
chr: 17
start: 78075339
stop: 78093680
strand: +

OMIM
OMIM:606800: GAA (Autosomal recessive inheritance)
OMIM:232300: Glycogen storage disease II

transcripts
NM_000152.3
NM_001079803.1
NM_001079804.1

pathways
Galactose metabolism [NCBI:82931] [KEGG:hsa00052]
Glucose metabolism [NCBI:1269959] [REACTOME:R-HSA-70326]
Glycogen breakdown (glycogenolysis) [NCBI:1269963] [REACTOME:R-HSA-70221] [PUBMED:4320262] [PUBMED:183599]
Immune System [NCBI:1269170] [REACTOME:R-HSA-168256]
Innate Immune System [NCBI:1269203] [REACTOME:R-HSA-168249]
Lysosomal glycogen catabolism [NCBI:1269964] [REACTOME:R-HSA-5357572] [PUBMED:8420990] [PUBMED:5264799] [PUBMED:3049072] [PUBMED:21767668]
Lysosome [NCBI:99052] [KEGG:hsa04142] [PUBMED:2943218] [PUBMED:12628346] [PUBMED:1883197] [PUBMED:18635948] [PUBMED:15987739]
Metabolic pathways [NCBI:132956] [KEGG:hsa01100]
Metabolism [NCBI:1269956] [REACTOME:R-HSA-1430728]
Metabolism of carbohydrates [NCBI:1269957] [REACTOME:R-HSA-71387]
Neutrophil degranulation [NCBI:1457780] [REACTOME:R-HSA-6798695] [PUBMED:20338884] [PUBMED:1378856] [PUBMED:17627888] [PUBMED:23650620] [PUBMED:8692836]
Notch-mediated HES/HEY network [NCBI:169347] [Pathway Interaction Database:hes_heypathway] [PUBMED:15546612] [PUBMED:11038350] [PUBMED:12065598] [PUBMED:11741889] [PUBMED:10851137] [PUBMED:10205173] [PUBMED:10747963] [PUBMED:10913198] [PUBMED:11101851] [PUBMED:16201968] [PUBMED:12488457] [PUBMED:12370315] [PUBMED:19116245] [PUBMED:16025100] [PUBMED:11486044] [PUBMED:15607978] [PUBMED:15467735] [PUBMED:14739937] [PUBMED:9694793] [PUBMED:8749394] [PUBMED:16782059] [PUBMED:12972610] [PUBMED:17392792] [PUBMED:11334435] [PUBMED:11486045] [PUBMED:16753023] [PUBMED:15485867] [PUBMED:15866158] [PUBMED:16199874] [PUBMED:12374742] [PUBMED:9570950] [PUBMED:10964718] [PUBMED:16682003] [PUBMED:16287852] [PUBMED:10692439] [PUBMED:11095750] [PUBMED:11287612] [PUBMED:15314183] [PUBMED:15156153] [PUBMED:15684393] [PUBMED:7566092] [PUBMED:11604511] [PUBMED:9819403] [PUBMED:15563463] [PUBMED:15870295]
Starch and sucrose metabolism [NCBI:82974] [KEGG:hsa00500]