ACP2 Antibody – Mouse Monoclonal

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]

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: EC 3.1.3.2; Cofactor and Vitamin Metabolism - riboflavin; Motility/polarity/chemotaxis; Phosphatase (non-protein); Membrane protein, integral

Chromosomal Location of Human Ortholog: 11p11.2|11p12-p11

Cellular Component: lysosomal lumen; membrane; lysosome; lysosomal membrane; integral to membrane

Molecular Function: acid phosphatase activity

Biological Process: dephosphorylation; lysosome organization and biogenesis; skeletal development

Disease: Acid Phosphatase Deficiency