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ACP2

Involvement in disease

Lysosomal acid phosphatase has been shown to be deficient in cultured fibroblasts from patients manifesting intermittent vomiting, hypotonia, lethargy, opisthotonos, terminal bleeding and death in early infancy.

Post-translational modifications

The membrane-bound form is converted to the soluble form by sequential proteolytic processing. First, the C-terminal cytoplasmic tail is removed. Cleavage by a lysosomal protease releases the soluble form in the lysosome lumen.

N-glycosylated. The intermediates formed during enzymatic deglycosylation suggest that all eight predicted N-glycosylation sites are used.

Sequence Similarities

Belongs to the histidine acid phosphatase family.

Cellular localization

Alternative names

Lysosomal acid phosphatase, LAP, ACP2

swissprot:P11117 omim:171650 entrezGene:53