CAA33542.1
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
~100,000
NCBI Official Full Name
acid phosphatase
NCBI Official Synonym Full Names
acid phosphatase 2, lysosomal
NCBI Official Synonym Symbols
NCBI Protein Information
lysosomal acid phosphatase
UniProt Protein Name
Lysosomal acid phosphatase
UniProt Synonym Gene Names
UniProt Entry Name
PPAL_HUMAN
NCBI Summary for ACPP
This gene encodes the beta subunit of lysosomal acid phosphatase (LAP). LAP is chemically and genetically distinct from red cell acid phosphatase. The encoded protein belongs to a family of distinct isoenzymes which hydrolyze orthophosphoric monoesters to alcohol and phosphate. LAP-deficiencies in mice cause multiple defects including bone structure alterations, lysosomal storage defects in the kidneys and central nervous system, and an increased tendency towards seizures. An enzymatically-inactive allele of LAP in mice exhibited a more severe phenotype than the null allele, and defects included cerebellum abnormalities, growth retardation, hair-follicle abnormalities, and an ataxia-like phenotype. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]
UniProt Comments for ACPP
ACP2: Defects in ACP2 are a cause of acid phosphatase deficiency (ACPHD). The clinical features are intermittent vomiting, hypotonia, lethargy, opisthotonos, terminal bleeding, and death in early infancy. Lysosomal acid phosphatase is deficient in cultured fibroblasts and multiple tissues. Belongs to the histidine acid phosphatase family.
Protein type: Cofactor and Vitamin Metabolism - riboflavin; Phosphatase (non-protein); EC 3.1.3.2; Membrane protein, integral; Motility/polarity/chemotaxis
Chromosomal Location of Human Ortholog: 11p11.2|11p12-p11
Cellular Component: lysosomal lumen; membrane; lysosomal membrane; lysosome; integral to membrane
Molecular Function: acid phosphatase activity
Biological Process: dephosphorylation; lysosome organization and biogenesis; skeletal development
Disease: Acid Phosphatase Deficiency
Research Articles on ACPP
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Products associated with ACPP enzyme
Pathways associated with ACPP enzyme
Diseases associated with ACPP enzyme
Organs/Tissues associated with ACPP enzyme
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