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EC Number
GeneOntology No.
preferably targeted to in mature neurons
isoforms APT1 and APT2
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
the most common mutation results in intracellular accumulation of the enzyme polypeptide and undetectable activity in the brain
enzyme is recognized by the mannose 6-phosphate receptor and routed to the lysosome
infantile neuronal ceroid lipofuscinosis is a lysosomal storage disease
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