ALPL
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Alkaline phosphatase, tissue-nonspecific isozyme is an enzyme that in humans is encoded by the ALPL gene.[4][5]
There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue-nonspecific). The first three are located together on chromosome 2, whereas the tissue-nonspecific form is located on chromosome 1. The product of this gene is a membrane-bound glycosylated enzyme that is not expressed in any particular tissue and is, therefore, referred to as the tissue-nonspecific form of the enzyme. The exact physiological function of the alkaline phosphatases is not known. A proposed function of this form of the enzyme is matrix mineralization. However, mice that lack a functional form of this enzyme show normal skeletal development. This enzyme has been linked directly to a disorder known as hypophosphatasia, a disorder that is characterized by hypercalcemia and includes skeletal defects. The character of this disorder can vary, however, depending on the specific mutation, since this determines age of onset and severity of symptoms.[6]
References
- ↑ "Diseases that are genetically associated with ALPL view/edit references on wikidata".
- ↑ "Human PubMed Reference:".
- ↑ "Mouse PubMed Reference:".
- ↑ Weiss MJ, Henthorn PS, Lafferty MA, Slaughter C, Raducha M, Harris H (Oct 1986). "Isolation and characterization of a cDNA encoding a human liver/bone/kidney-type alkaline phosphatase". Proc Natl Acad Sci U S A. 83 (19): 7182–6. doi:10.1073/pnas.83.19.7182. PMC 386679
. PMID 3532105. - ↑ Swallow DM, Povey S, Parkar M, Andrews PW, Harris H, Pym B, Goodfellow P (May 1988). "Mapping of the gene coding for the human liver/bone/kidney isozyme of alkaline phosphatase to chromosome 1". Ann Hum Genet. 50 (Pt 3): 229–35. doi:10.1111/j.1469-1809.1986.tb01043.x. PMID 3446011.
- ↑ "Entrez Gene: ALPL alkaline phosphatase, liver/bone/kidney".
External links
Further reading
- Mornet E (2000). "Hypophosphatasia: the mutations in the tissue-nonspecific alkaline phosphatase gene.". Hum. Mutat. 15 (4): 309–15. doi:10.1002/(SICI)1098-1004(200004)15:4<309::AID-HUMU2>3.0.CO;2-C. PMID 10737975.
- Khandwala HM, Mumm S, Whyte MP (2007). "Low serum alkaline phosphatase activity and pathologic fracture: case report and brief review of hypophosphatasia diagnosed in adulthood.". Endocrine Practice. 12 (6): 676–81. doi:10.4158/ep.12.6.676. PMID 17229666.
- Nye KE, Riley GA, Pinching AJ (1992). "The defect seen in the phosphatidylinositol hydrolysis pathway in HIV-infected lymphocytes and lymphoblastoid cells is due to inhibition of the inositol 1,4,5-trisphosphate 1,3,4,5-tetrakisphosphate 5-phosphomonoesterase.". Clin. Exp. Immunol. 89 (1): 89–93. doi:10.1111/j.1365-2249.1992.tb06883.x. PMC 1554388. PMID 1321014.
- Henthorn PS, Raducha M, Fedde KN, et al. (1992). "Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia.". Proc. Natl. Acad. Sci. U.S.A. 89 (20): 9924–8. doi:10.1073/pnas.89.20.9924. PMC 50246. PMID 1409720.
- Nishihara Y, Hayashi Y, Adachi T, et al. (1993). "Chemical nature of intestinal-type alkaline phosphatase in human kidney.". Clin. Chem. 38 (12): 2539–42. PMID 1458595.
- Fedde KN, Whyte MP (1990). "Alkaline phosphatase (tissue-nonspecific isoenzyme) is a phosphoethanolamine and pyridoxal-5'-phosphate ectophosphatase: normal and hypophosphatasia fibroblast study.". Am. J. Hum. Genet. 47 (5): 767–75. PMC 1683690. PMID 2220817.
- Kishi F, Matsuura S, Kajii T (1989). "Nucleotide sequence of the human liver-type alkaline phosphatase cDNA.". Nucleic Acids Res. 17 (5): 2129. doi:10.1093/nar/17.5.2129. PMC 317555. PMID 2928120.
- Weiss MJ, Ray K, Henthorn PS, et al. (1988). "Structure of the human liver/bone/kidney alkaline phosphatase gene.". J. Biol. Chem. 263 (24): 12002–10. PMID 3165380.
- Weiss MJ, Cole DE, Ray K, et al. (1988). "A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia.". Proc. Natl. Acad. Sci. U.S.A. 85 (20): 7666–9. doi:10.1073/pnas.85.20.7666. PMC 282253. PMID 3174660.
- Smith M, Weiss MJ, Griffin CA, et al. (1988). "Regional assignment of the gene for human liver/bone/kidney alkaline phosphatase to chromosome 1p36.1-p34.". Genomics. 2 (2): 139–43. doi:10.1016/0888-7543(88)90095-X. PMID 3410475.
- Garattini E, Hua JC, Pan YC, Udenfriend S (1986). "Human liver alkaline phosphatase, purification and partial sequencing: homology with the placental isozyme.". Arch. Biochem. Biophys. 245 (2): 331–7. doi:10.1016/0003-9861(86)90223-7. PMID 3954357.
- Goldstein DJ, Blasco L, Harris H (1981). "Placental alkaline phosphatase in nonmalignant human cervix.". Proc. Natl. Acad. Sci. U.S.A. 77 (7): 4226–8. doi:10.1073/pnas.77.7.4226. PMC 349804. PMID 6933471.
- Sato N, Takahashi Y, Asano S (1994). "Preferential usage of the bone-type leader sequence for the transcripts of liver/bone/kidney-type alkaline phosphatase gene in neutrophilic granulocytes.". Blood. 83 (4): 1093–101. PMID 7509208.
- Orimo H, Hayashi Z, Watanabe A, et al. (1995). "Novel missense and frameshift mutations in the tissue-nonspecific alkaline phosphatase gene in a Japanese patient with hypophosphatasia.". Hum. Mol. Genet. 3 (9): 1683–4. doi:10.1093/hmg/3.9.1683. PMID 7833929.
- Greenberg CR, Taylor CL, Haworth JC, et al. (1993). "A homoallelic Gly317→Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian mennonites.". Genomics. 17 (1): 215–7. doi:10.1006/geno.1993.1305. PMID 8406453.
- Ozono K, Yamagata M, Michigami T, et al. (1997). "Identification of novel missense mutations (Phe310Leu and Gly439Arg) in a neonatal case of hypophosphatasia.". J. Clin. Endocrinol. Metab. 81 (12): 4458–61. doi:10.1210/jc.81.12.4458. PMID 8954059.
- Orimo H, Goseki-Sone M, Sato S, Shimada T (1997). "Detection of deletion 1154-1156 hypophosphatasia mutation using TNSALP exon amplification.". Genomics. 42 (2): 364–6. doi:10.1006/geno.1997.4733. PMID 9192863.
- Sugimoto N, Iwamoto S, Hoshino Y, Kajii E (1998). "A novel missense mutation of the tissue-nonspecific alkaline phosphatase gene detected in a patient with hypophosphatasia.". J. Hum. Genet. 43 (3): 160–4. doi:10.1007/s100380050061. PMID 9747027.
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