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EC Number
Localization
Commentary
GeneOntology No.
Reference
3.1.2.22
axon
preferably targeted to in mature neurons
GO:0030424
AmiGO
QuickGO
652624
3.1.2.22
cytosol
-
GO:0005829
AmiGO
QuickGO
23915
,
707548
3.1.2.22
cytosol
isoforms APT1 and APT2
GO:0005829
AmiGO
QuickGO
750869
3.1.2.22
endoplasmic reticulum
-
GO:0005783
AmiGO
QuickGO
751937
3.1.2.22
endoplasmic reticulum
in contrast to the wild type enzyme, the mutant polypeptides are retained in the endoplasmic reticulum, most probably due to the misfolding of the mutant polypeptide
GO:0005783
AmiGO
QuickGO
23911
3.1.2.22
Golgi apparatus
-
GO:0005794
AmiGO
QuickGO
751937
3.1.2.22
intracellular
the most common mutation results in intracellular accumulation of the enzyme polypeptide and undetectable activity in the brain
GO:0005622
AmiGO
QuickGO
23912
3.1.2.22
lysosome
-
GO:0005764
AmiGO
QuickGO
23910
,
23911
,
23918
,
650368
,
650862
,
651030
,
653360
,
653651
,
692414
,
716683
,
751433
,
751466
,
751572
,
751937
3.1.2.22
lysosome
enzyme is recognized by the mannose 6-phosphate receptor and routed to the lysosome
GO:0005764
AmiGO
QuickGO
651451
3.1.2.22
lysosome
infantile neuronal ceroid lipofuscinosis is a lysosomal storage disease
GO:0005764
AmiGO
QuickGO
23914
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