Aliases for ACP2 Gene
External Ids for ACP2 Gene
Previous GeneCards Identifiers for ACP2 Gene
The protein encoded by this gene belongs to the histidine acid phosphatase family, which hydrolyze orthophosphoric monoesters to alcohol and phosphate. This protein is localized to the lysosomal membrane, and is chemically and genetically distinct from the red cell acid phosphatase. Mice lacking this gene showed multiple defects, including bone structure alterations, lysosomal storage defects, and an increased tendency towards seizures. An enzymatically-inactive allele of this gene in mice showed severe growth retardation, hair-follicle abnormalities, and an ataxia-like phenotype. Alternatively spliced transcript variants have been found for this gene. A C-terminally extended isoform is also predicted to be produced by the use of an alternative in-frame translation termination codon via a stop codon readthrough mechanism. [provided by RefSeq, Oct 2017]
GeneCards Summary for ACP2 Gene
ACP2 (Acid Phosphatase 2, Lysosomal) is a Protein Coding gene. Diseases associated with ACP2 include Acid Phosphatase Deficiency and Phosphatase, Acid, Of Tissues. Among its related pathways are Riboflavin metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include acid phosphatase activity. An important paralog of this gene is ACPP.