ALPL

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ALPL
Identifiers
Aliases ALPL, AP-TNAP, APTNAP, HOPS, TNAP, TNSALP, alkaline phosphatase, liver/bone/kidney
External IDs MGI: 87983 HomoloGene: 37314 GeneCards: 249
Genetically Related Diseases
Disease Name References
Rheumatoid Arthritis
RNA expression pattern
PBB GE ALPL 215783 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000478
NM_001127501
NM_001177520

NM_001287172
NM_001287176
NM_007431

RefSeq (protein)

NP_000469.3
NP_001120973.2
NP_001170991.1

NP_001274101.1
NP_031457.2

Location (UCSC) Chr 1: 21.51 – 21.58 Mb Chr 4: 137.74 – 137.8 Mb
PubMed search [2] [3]
Wikidata
View/Edit Human View/Edit Mouse

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[edit]

  1. ^ "chibi.ubc.ca/Gemma/phenotypes.html?phenotypeUrlId=DOID_7148&geneId=6164". 
  2. ^ "Human PubMed Reference:". 
  3. ^ "Mouse PubMed Reference:". 
  4. ^ 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 386679free to read. PMID 3532105. 
  5. ^ 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. 
  6. ^ "Entrez Gene: ALPL alkaline phosphatase, liver/bone/kidney". 

External links[edit]

Further reading[edit]