GAA report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

GO_0000023Biological processmaltose metabolic process
GO_0007040Biological processlysosome organization
GO_0035904Biological processaorta development
GO_0009888Biological processtissue development
GO_0046716Biological processmuscle cell cellular homeostasis
GO_0002086Biological processdiaphragm contraction
GO_0005980Biological processglycogen catabolic process
GO_0050885Biological processneuromuscular process controlling balance
GO_0002026Biological processregulation of the force of heart contraction
GO_0060048Biological processcardiac muscle contraction
GO_0050884Biological processneuromuscular process controlling posture
GO_0005985Biological processsucrose metabolic process
GO_0043181Biological processvacuolar sequestering
GO_0007626Biological processlocomotory behavior
GO_0061723Biological processglycophagy
GO_0006006Biological processglucose metabolic process
GO_0003007Biological processheart morphogenesis
GO_0005886Cellular componentplasma membrane
GO_0016020Cellular componentmembrane
GO_0005764Cellular componentlysosome
GO_0035577Cellular componentazurophil granule membrane
GO_0070062Cellular componentextracellular exosome
GO_0070821Cellular componenttertiary granule membrane
GO_0101003Cellular componentficolin-1-rich granule membrane
GO_0043231Cellular componentintracellular membrane-bounded organelle
GO_0043202Cellular componentlysosomal lumen
GO_0120282Cellular componentautolysosome lumen
GO_0005765Cellular componentlysosomal membrane
GO_0030246Molecular functioncarbohydrate binding
GO_0004558Molecular functionalpha-1,4-glucosidase activity
GO_0090599Molecular functionalpha-glucosidase activity
GO_0032450Molecular functionmaltose alpha-glucosidase activity

IV. Literature review

[source]
Gene nameGAA
Protein nameLysosomal alpha-glucosidase (EC 3.2.1.20) (Acid maltase)
alpha-glucosidase (EC 3.2.1.20)
Alpha glucosidase
Lysosomal alpha-glucosidase (EC 3.2.1.20) (Acid maltase) (Aglucosidase alfa) [Cleaved into: 76 kDa lysosomal alpha-glucosidase; 70 kDa lysosomal alpha-glucosidase]
Synonyms
DescriptionFUNCTION: 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 . .

AccessionsENST00000577106.5
ENST00000570803.6
ENST00000302262.8
ENST00000390015.7
P10253
ENST00000707779.1
ENST00000707781.1
ENST00000572080.2
I3L3L3
ENST00000570803.5
ENST00000577106.6
I3L0S5
I3L2V9