ACP2
From Wikipedia, the free encyclopedia
Acid phosphatase 2, lysosomal
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Identifiers | ||||||||||||||
Symbol(s) | ACP2; | |||||||||||||
External IDs | OMIM: 171650 MGI: 87882 HomoloGene: 1217 | |||||||||||||
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RNA expression pattern | ||||||||||||||
Orthologs | ||||||||||||||
Human | Mouse | |||||||||||||
Entrez | 53 | 11432 | ||||||||||||
Ensembl | ENSG00000134575 | ENSMUSG00000002103 | ||||||||||||
Uniprot | P11117 | Q3U4F3 | ||||||||||||
Refseq | NM_001610 (mRNA) NP_001601 (protein) |
NM_007387 (mRNA) NP_031413 (protein) |
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Location | Chr 11: 47.22 - 47.23 Mb | Chr 2: 91 - 91.01 Mb | ||||||||||||
Pubmed search | [1] | [2] |
Acid phosphatase 2, lysosomal, also known as ACP2, is a human gene.[1]
Lysosomal acid phosphatase is comprised of two subunits, alpha and beta, and is chemically and genetically distinct from red cell acid phosphatase. Lysosomal acid phosphatase 2 is a member of a family of distinct isoenzymes which hydrolyze orthophosphoric monoesters to alcohol and phosphate. Acid phosphatase deficiency is caused by mutations in the ACP2 (beta subunit) and ACP3 (alpha subunit) genes.[1]
[edit] References
[edit] Further reading
- Moss DW, Raymond FD, Wile DB (1995). "Clinical and biological aspects of acid phosphatase.". Critical reviews in clinical laboratory sciences 32 (4): 431–67. PMID 7576159.
- Gierek T, Lisiewicz T, Pilch J (1977). "Intracellular enzymatic response of lymphocytes and neutrophils in patients with cancer of the larynx.". Folia Haematol. Int. Mag. Klin. Morphol. Blutforsch. 104 (2): 208–15. PMID 69583.
- Jones C, Kao FT (1979). "Regional mapping of the gene for human lysosomal acid phosphatase (ACP2) using a hybrid clone panel containing segments of human chromosome 11.". Hum. Genet. 45 (1): 1–10. PMID 730175.
- Shows TB, Brown JA, Lalley PA (1976). "Assignment and linear order of human acid phosphatase-2, esterase A4, and lactate dehydrogenase A genes on chromosome 11.". Cytogenet. Cell Genet. 16 (1-5): 231–4. PMID 975882.
- Geier C, von Figura K, Pohlmann R (1989). "Structure of the human lysosomal acid phosphatase gene.". Eur. J. Biochem. 183 (3): 611–6. PMID 2776754.
- Lemansky P, Gieselmann V, Hasilik A, von Figura K (1985). "Synthesis and transport of lysosomal acid phosphatase in normal and I-cell fibroblasts.". J. Biol. Chem. 260 (15): 9023–30. PMID 3160696.
- Pohlmann R, Krentler C, Schmidt B, et al. (1989). "Human lysosomal acid phosphatase: cloning, expression and chromosomal assignment.". EMBO J. 7 (8): 2343–50. PMID 3191910.
- Waheed A, Van Etten RL (1985). "Biosynthesis and processing of lysosomal acid phosphatase in cultured human cells.". Arch. Biochem. Biophys. 243 (1): 274–83. PMID 3904632.
- Nadler HL, Egan TJ (1970). "Deficiency of lysosomal acid phosphatase. A new familial metabolic disorder.". N. Engl. J. Med. 282 (6): 302–7. PMID 5410815.
- Bass DA, Lewis JC, Szejda P, et al. (1981). "Activation of lysosomal acid phosphatase of eosinophil leukocytes.". Lab. Invest. 44 (5): 403–9. PMID 6164873.
- Chappard D, Alexandre C, Riffat G (1983). "Histochemical identification of osteoclasts. Review of current methods and reappraisal of a simple procedure for routine diagnosis on undecalcified human iliac bone biopsies.". Basic and applied histochemistry 27 (2): 75–85. PMID 6193776.
- Moszczyński P, Lisiewicz J (1984). "Beta-glucuronidase of lymphocytes in ontogenetic development of man.". Arch. Immunol. Ther. Exp. (Warsz.) 31 (2): 171–6. PMID 6651479.
- Radzun HJ, Parwaresch MR (1981). "Isoelectric focusing pattern of acid phosphatase and acid esterase in human blood cells, including thymocytes, T lymphocytes, and B lymphocytes.". Exp. Hematol. 8 (6): 737–41. PMID 6970673.
- Andersson B, Wentland MA, Ricafrente JY, et al. (1996). "A "double adaptor" method for improved shotgun library construction.". Anal. Biochem. 236 (1): 107–13. doi: . PMID 8619474.
- Whitelock RB, Fukuchi T, Zhou L, et al. (1997). "Cathepsin G, acid phosphatase, and alpha 1-proteinase inhibitor messenger RNA levels in keratoconus corneas.". Invest. Ophthalmol. Vis. Sci. 38 (2): 529–34. PMID 9040486.
- Yu W, Andersson B, Worley KC, et al. (1997). "Large-scale concatenation cDNA sequencing.". Genome Res. 7 (4): 353–8. PMID 9110174.
- Obermüller S, Kiecke C, von Figura K, Höning S (2002). "The tyrosine motifs of Lamp 1 and LAP determine their direct and indirect targetting to lysosomes.". J. Cell. Sci. 115 (Pt 1): 185–94. PMID 11801736.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi: . PMID 12477932.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi: . PMID 15489334.