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Literature summary for 3.1.3.1 extracted from
- Molecular characterization of tissue-nonspecific alkaline phosphatase with an Ala to Thr substitution at position 116 associated with dominantly inherited hypophosphatasia (2011), Biochim. Biophys. Acta, 1812, 326-332.
Cloned(Commentary)
| Cloned (Comment) | Organism |
|---|---|
| expressed in COS-1 cells | Homo sapiens |
Protein Variants
| Protein Variants | Comment | Organism |
|---|---|---|
| A116T | mutant responsible for hypophosphatasia shows negligible alkaline phosphatase activity and a weak dominant negative effect when co-expressed with the wild-type enzyme, mutant exists as a monomer and heterogeneously associated aggregates covalently linked via disulfide bonds in contrast to wild-type enzyme which exists as a homodimer | Homo sapiens |
Organism
| Organism | UniProt | Comment | Textmining |
|---|---|---|---|
| Homo sapiens | - |
- |
- |
Synonyms
| Synonyms | Comment | Organism |
|---|---|---|
| alkaline phosphatase | - |
Homo sapiens |
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Release 2023.1 (January 2023)
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