Cloned (Comment) | Organism |
---|---|
transient expression in COS-1 cell | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
C201Y | mutation identified in patient diagnosed with perinatal hypophosphatasia. Mutants exhibit a diminished alkaline phosphatase activity in the cells, where a 66 kDa immature form is predominant with a marginal amount of a 80 kDa mature form. The 66 kDa form exists as a monomer in contrast to a dimer form of wild-type. Only a small fraction of the mutant protein reaches cell surface as the 80 kDa mature form, most of the 66 kDa form is found to be endo-beta-N-acetylglucosaminidase H sensitive and rapidly degraded in proteasome following polyubiquitination | Homo sapiens |
C489S | mutation identified in patient diagnosed with perinatal hypophosphatasia. Mutants exhibit a diminished alkaline phosphatase activity in the cells, where a 66 kDa immature form is predominant with a marginal amount of a 80 kDa mature form | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | P05186 | - |
- |
Synonyms | Comment | Organism |
---|---|---|
tissue-nonspecific alkaline phosphatase | - |
Homo sapiens |
TNSALP | - |
Homo sapiens |