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ACP2 / Acid Phosphatase 2
acid phosphatase 2, lysosomal
ACP2 / Acid Phosphatase 2 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.
| Gene Name: | acid phosphatase 2, lysosomal |
| Synonyms: | ACP2, Acid Phosphatase 2, Acid phosphatase 2, lysosomal, LAP, Lysosomal acid phosphatase |
| Target Sequences: | NM_001610 NP_001601.1 P11117 |
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