alkaline phosphatase-L (liver/kidney/bone, tissue-nonspecific alkaline phosphatase, ALPL)
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Function
- may play a role in skeletal mineralization
phosphate monoester + H2O <--> an alcohol + phosphate
Cofactor:
- binds 1 Mg+2 (putative)
- binds 2 Zn+2 (putative)
Structure
- glypiated protein
- homodimer
- belongs to the alkaline phosphatase family
Compartment
cell membrane, lipid-anchor, GPI-anchor
Pathology
- defects in ALPL are a cause of familial hypophosphatasia, infantile, childhood & adult forms
Pharmacology
- asfotase alfa (Strensiq) is a recombinant protein used as replacement therapy in familial hypophosphatasia[6]
Laboratory
Notes
- in most mammals there are four different isozymes: placental, placental-like, intestinal & tissue non-specific (liver/bone/kidney)
More general terms
Additional terms
References
- ↑ OMIM https://mirror.omim.org/entry/171760
- ↑ ALPL, Tissue nonspecific alkaline phosphatase gene mutations database http://www.sesep.uvsq.fr/Database.html
- ↑ GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=ALPL
- ↑ Wikipedia; note=alkaline phosphatase entry http://en.wikipedia.org/wiki/alkaline_phosphatase
- ↑ UniProt http://www.uniprot.org/uniprot/P05186.html
- ↑ 6.0 6.1 FDA News Release. October 23, 2015 FDA approves new treatment for rare metabolic disorder. http://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm468836.htm