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Alkaline phosphatase, liver/bone/kidney
Identifiers
Symbols ALPL; AP-TNAP; FLJ40094; HOPS; MGC161443; TNAP; TNSALP
External IDs OMIM171760 MGI87983 HomoloGene37314 GeneCards: ALPL Gene
RNA expression pattern
PBB GE ALPL 215783 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 249 11647
Ensembl ENSG00000162551 ENSMUSG00000028766
UniProt P05186 Q3TJD3
RefSeq (mRNA) NM_000478 NM_007431
RefSeq (protein) NP_000469 NP_031457
Location (UCSC) Chr 1:
21.71 - 21.78 Mb
Chr 4:
137.01 - 137.07 Mb
PubMed search [1] [2]

Alkaline phosphatase, tissue-nonspecific isozyme is an enzyme that in humans is encoded by the ALPL gene.[1][2]

There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The first three are located together on chromosome 2 while the tissue non-specific 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.[3]

References

  1. ^ 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. PMID 3532105.  
  2. ^ 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. PMID 3446011.  
  3. ^ "Entrez Gene: ALPL alkaline phosphatase, liver/bone/kidney". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=249.  

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 : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists 12 (6): 676–81. 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. 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. 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. 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. 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. 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. 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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