ALPL

From Wikipedia, the free encyclopedia
Jump to: navigation, search
Alkaline phosphatase, liver/bone/kidney
Identifiers
Symbols ALPL ; AP-TNAP; APTNAP; HOPS; TNAP; TNSALP
External IDs OMIM171760 MGI87983 HomoloGene37314 ChEMBL: 5979 GeneCards: ALPL Gene
EC number 3.1.3.1
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 P09242
RefSeq (mRNA) NM_000478 NM_001287172
RefSeq (protein) NP_000469 NP_001274101
Location (UCSC) Chr 1:
21.84 – 21.9 Mb
Chr 4:
137.74 – 137.8 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-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.[3]

References[edit]

  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. doi:10.1073/pnas.83.19.7182. PMC 386679. 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. doi:10.1111/j.1469-1809.1986.tb01043.x. PMID 3446011. 
  3. ^ "Entrez Gene: ALPL alkaline phosphatase, liver/bone/kidney". 

External links[edit]

Further reading[edit]