ALPL

Alkaline phosphatase, liver/bone/kidney, also known as ALPL, is a human gene.

PBB_Summary
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summary_text = 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. [cite web | title = Entrez Gene: ALPL alkaline phosphatase, liver/bone/kidney| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=249| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Mornet E |title=Hypophosphatasia: the mutations in the tissue-nonspecific alkaline phosphatase gene. |journal=Hum. Mutat. |volume=15 |issue= 4 |pages= 309–15 |year= 2000 |pmid= 10737975 |doi= 10.1002/(SICI)1098-1004(200004)15:4<309::AID-HUMU2>3.0.CO;2-C |doilabel=10.1002/(SICI)1098-1004(200004)15:4309::AID-HUMU23.0.CO;2-C
*cite journal | author=Khandwala HM, Mumm S, Whyte MP |title=Low serum alkaline phosphatase activity and pathologic fracture: case report and brief review of hypophosphatasia diagnosed in adulthood. |journal=Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists |volume=12 |issue= 6 |pages= 676–81 |year= 2007 |pmid= 17229666 |doi=
*cite journal | author=Nye KE, Riley GA, Pinching AJ |title=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. |journal=Clin. Exp. Immunol. |volume=89 |issue= 1 |pages= 89–93 |year= 1992 |pmid= 1321014 |doi=
*cite journal | author=Henthorn PS, Raducha M, Fedde KN, "et al." |title=Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=89 |issue= 20 |pages= 9924–8 |year= 1992 |pmid= 1409720 |doi=
*cite journal | author=Nishihara Y, Hayashi Y, Adachi T, "et al." |title=Chemical nature of intestinal-type alkaline phosphatase in human kidney. |journal=Clin. Chem. |volume=38 |issue= 12 |pages= 2539–42 |year= 1993 |pmid= 1458595 |doi=
*cite journal | author=Fedde KN, Whyte MP |title=Alkaline phosphatase (tissue-nonspecific isoenzyme) is a phosphoethanolamine and pyridoxal-5'-phosphate ectophosphatase: normal and hypophosphatasia fibroblast study. |journal=Am. J. Hum. Genet. |volume=47 |issue= 5 |pages= 767–75 |year= 1990 |pmid= 2220817 |doi=
*cite journal | author=Kishi F, Matsuura S, Kajii T |title=Nucleotide sequence of the human liver-type alkaline phosphatase cDNA. |journal=Nucleic Acids Res. |volume=17 |issue= 5 |pages= 2129 |year= 1989 |pmid= 2928120 |doi=
*cite journal | author=Weiss MJ, Ray K, Henthorn PS, "et al." |title=Structure of the human liver/bone/kidney alkaline phosphatase gene. |journal=J. Biol. Chem. |volume=263 |issue= 24 |pages= 12002–10 |year= 1988 |pmid= 3165380 |doi=
*cite journal | author=Weiss MJ, Cole DE, Ray K, "et al." |title=A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=85 |issue= 20 |pages= 7666–9 |year= 1988 |pmid= 3174660 |doi=
*cite journal | author=Smith M, Weiss MJ, Griffin CA, "et al." |title=Regional assignment of the gene for human liver/bone/kidney alkaline phosphatase to chromosome 1p36.1-p34. |journal=Genomics |volume=2 |issue= 2 |pages= 139–43 |year= 1988 |pmid= 3410475 |doi=
*cite journal | author=Swallow DM, Povey S, Parkar M, "et al." |title=Mapping of the gene coding for the human liver/bone/kidney isozyme of alkaline phosphatase to chromosome 1. |journal=Ann. Hum. Genet. |volume=50 |issue= Pt 3 |pages= 229–35 |year= 1988 |pmid= 3446011 |doi=
*cite journal | author=Weiss MJ, Henthorn PS, Lafferty MA, "et al." |title=Isolation and characterization of a cDNA encoding a human liver/bone/kidney-type alkaline phosphatase. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=83 |issue= 19 |pages= 7182–6 |year= 1986 |pmid= 3532105 |doi=
*cite journal | author=Garattini E, Hua JC, Pan YC, Udenfriend S |title=Human liver alkaline phosphatase, purification and partial sequencing: homology with the placental isozyme. |journal=Arch. Biochem. Biophys. |volume=245 |issue= 2 |pages= 331–7 |year= 1986 |pmid= 3954357 |doi=
*cite journal | author=Goldstein DJ, Blasco L, Harris H |title=Placental alkaline phosphatase in nonmalignant human cervix. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=77 |issue= 7 |pages= 4226–8 |year= 1981 |pmid= 6933471 |doi=
*cite journal | author=Sato N, Takahashi Y, Asano S |title=Preferential usage of the bone-type leader sequence for the transcripts of liver/bone/kidney-type alkaline phosphatase gene in neutrophilic granulocytes. |journal=Blood |volume=83 |issue= 4 |pages= 1093–101 |year= 1994 |pmid= 7509208 |doi=
*cite journal | author=Orimo H, Hayashi Z, Watanabe A, "et al." |title=Novel missense and frameshift mutations in the tissue-nonspecific alkaline phosphatase gene in a Japanese patient with hypophosphatasia. |journal=Hum. Mol. Genet. |volume=3 |issue= 9 |pages= 1683–4 |year= 1995 |pmid= 7833929 |doi=
*cite journal | author=Greenberg CR, Taylor CL, Haworth JC, "et al." |title=A homoallelic Gly317-->Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian mennonites. |journal=Genomics |volume=17 |issue= 1 |pages= 215–7 |year= 1993 |pmid= 8406453 |doi= 10.1006/geno.1993.1305
*cite journal | author=Ozono K, Yamagata M, Michigami T, "et al." |title=Identification of novel missense mutations (Phe310Leu and Gly439Arg) in a neonatal case of hypophosphatasia. |journal=J. Clin. Endocrinol. Metab. |volume=81 |issue= 12 |pages= 4458–61 |year= 1997 |pmid= 8954059 |doi=
*cite journal | author=Orimo H, Goseki-Sone M, Sato S, Shimada T |title=Detection of deletion 1154-1156 hypophosphatasia mutation using TNSALP exon amplification. |journal=Genomics |volume=42 |issue= 2 |pages= 364–6 |year= 1997 |pmid= 9192863 |doi= 10.1006/geno.1997.4733
*cite journal | author=Sugimoto N, Iwamoto S, Hoshino Y, Kajii E |title=A novel missense mutation of the tissue-nonspecific alkaline phosphatase gene detected in a patient with hypophosphatasia. |journal=J. Hum. Genet. |volume=43 |issue= 3 |pages= 160–4 |year= 1998 |pmid= 9747027 |doi=

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