GAA M318T [lysosomal lumen]

Stable Identifier
R-HSA-5357607
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
lysosomal alpha-glucosidase M318T, acid maltase M318T
Locations in the PathwayBrowser
External Reference Information
External Reference
Gene Names
GAA
Chain
signal peptide:1-27, propeptide:28-69, chain:70-952, chain:123-952, chain:204-952
Other Identifiers
0006550500
11716871_at
16838509
202812_at
2548
31816_at
3737141
3737142
3737143
3737146
3737147
3737148
3737150
3737151
3737152
3737153
3737154
3737155
3737156
3737157
3737159
3737160
3737161
3737163
3737164
3737167
3737168
3737169
3737170
3737171
3737172
3737174
3737175
8010354
A_23_P153026
GE59804
GO:0000023
GO:0002026
GO:0002086
GO:0002376
GO:0003007
GO:0003013
GO:0003674
GO:0003824
GO:0004553
GO:0004558
GO:0005575
GO:0005576
GO:0005615
GO:0005622
GO:0005737
GO:0005764
GO:0005765
GO:0005773
GO:0005886
GO:0005975
GO:0005977
GO:0005980
GO:0005985
GO:0006006
GO:0006091
GO:0006810
GO:0006941
GO:0007040
GO:0007626
GO:0008150
GO:0008152
GO:0009056
GO:0009888
GO:0016020
GO:0016192
GO:0016787
GO:0016798
GO:0030246
GO:0031410
GO:0032450
GO:0035577
GO:0042592
GO:0043181
GO:0043202
GO:0043226
GO:0043312
GO:0044281
GO:0046716
GO:0048856
GO:0050877
GO:0050884
GO:0050885
GO:0060048
GO:0070062
GO:0070821
GO:0090599
GO:0101003
ILMN_1765801
ILMN_2410783
PH_hs_0000195
TC17000915.hg
X55079_rna1_at
g11496988_3p_at
Participant Of
Other forms of this molecule
Modified Residues
Name
L-methionine 318 replaced with L-threonine
Coordinate
318
PsiMod
A protein modification that effectively converts a source amino acid residue to L-threonine.
A protein modification that effectively removes or replaces an L-methionine.
Disease
Name Identifier Synonyms
glycogen storage disease II 2752 Lysosomal alpha-1,4-glucosidase deficiency (disorder), deficiency of glucoamylase, glycogen storage disease type II, acid maltase deficiency, deficiency of maltase, Glycogen storage disease, type II (disorder), Pompe's disease, Generalized glycogenosis (disorder), Glycogenosis, type 2
Cross References
ZINC - World Drugs
OpenTargets
ZINC - FDA approved
ZINC - Substances
ZINC target
ZINC - Biogenic
PRO
ZINC - Metabolites
IntEnz
GeneCards
ZINC - Predictions - Purchasable
Orphanet
HMDB Protein
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