Aliases for ACP2 Gene
External Ids for ACP2 Gene
Previous GeneCards Identifiers for ACP2 Gene
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]
GeneCards Summary for ACP2 Gene
ACP2 (Acid Phosphatase 2, Lysosomal) is a Protein Coding gene. Diseases associated with ACP2 include Lysosomal Acid Phosphatase Deficiency and Keratoconus. Among its related pathways are Pyrimidine metabolism (KEGG) and Lysosome. GO annotations related to this gene include acid phosphatase activity. An important paralog of this gene is ACPP.