| UniProt Protein Function: | 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: Membrane protein, integral; Phosphatase (non-protein); Cofactor and Vitamin Metabolism - riboflavin; EC 3.1.3.2; Motility/polarity/chemotaxisChromosomal Location of Human Ortholog: 11p11.2|11p12-p11Cellular Component: lysosomal lumen; membrane; lysosome; lysosomal membrane; integral to membraneMolecular Function: acid phosphatase activityBiological Process: dephosphorylation; lysosome organization and biogenesis; skeletal developmentDisease: Acid Phosphatase Deficiency |
| UniProt Protein Details: | |
| NCBI Summary: | 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 Code: | P11117 |
| NCBI GenInfo Identifier: | 197100230 |
| NCBI Gene ID: | 53 |
| NCBI Accession: | NP_001124536.1 |
| UniProt Secondary Accession: | P11117,Q561W5, Q9BTU7, E9PCI1 |
| UniProt Related Accession: | P11117 |
| Molecular Weight: | 18,417 Da |
| NCBI Full Name: | |
| NCBI Synonym Full Names: | acid phosphatase 2, lysosomal |
| NCBI Official Symbol: | ACP2 |
| NCBI Official Synonym Symbols: | LAP |
| NCBI Protein Information: | lysosomal acid phosphatase |
| UniProt Protein Name: | Lysosomal acid phosphatase |
| UniProt Synonym Protein Names: | |
| Protein Family: | Leucine aminopeptidase |
| UniProt Gene Name: | ACP2 |
| UniProt Entry Name: | PPAL_HUMAN |
