ACP2
Lysosomal acid phosphatase is an enzyme that in humans is encoded by the ACP2 gene.[5][6]
| ACP2 | |||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | ACP2, acid phosphatase 2, lysosomal, LAP | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 171650 MGI: 87882 HomoloGene: 1217 GeneCards: ACP2 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal acid phosphatase is composed 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.[6]
References
- GRCh38: Ensembl release 89: ENSG00000134575 - Ensembl, May 2017
- GRCm38: Ensembl release 89: ENSMUSG00000002103 - Ensembl, May 2017
- "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- Shows TB, Brown JA, Lalley PA (Dec 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. doi:10.1159/000130598. PMID 975882.
- "Entrez Gene: ACP2 acid phosphatase 2, lysosomal".
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. doi:10.3109/10408369509084690. 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. doi:10.1007/BF00277567. PMID 730175. S2CID 21173503.
- Geier C, von Figura K, Pohlmann R (1989). "Structure of the human lysosomal acid phosphatase gene". Eur. J. Biochem. 183 (3): 611–6. doi:10.1111/j.1432-1033.1989.tb21090.x. 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. doi:10.1016/S0021-9258(17)39452-8. 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. doi:10.1002/j.1460-2075.1988.tb03078.x. PMC 457099. 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. doi:10.1016/0003-9861(85)90796-9. 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. doi:10.1056/NEJM197002052820604. 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:10.1006/abio.1996.0138. 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. doi:10.1101/gr.7.4.353. PMC 139146. 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 targeting to lysosomes". J. Cell Sci. 115 (Pt 1): 185–94. doi:10.1242/jcs.115.1.185. 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. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. 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:10.1101/gr.2596504. PMC 528928. PMID 15489334.
External links
- Human ACP2 genome location and ACP2 gene details page in the UCSC Genome Browser.
This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.