EC Number | Application | Comment | Organism |
---|---|---|---|
3.1.3.56 | medicine | in individuals exhibiting congenital muscular dystrophy, early-onset cataracts, and mild intellectual disability but normal cranial magnetic resonance imaging, bi-allelic mutations in isoform INPP5K are found. Mutations impair phosphatase activity toward phosphatidylinositol (4,5)-bisphosphate or alter the subcellular localization of INPP5K | Homo sapiens |
EC Number | Organism | UniProt | Comment | Textmining |
---|---|---|---|---|
3.1.3.56 | Danio rerio | A0A2R8QKI3 | - |
- |
3.1.3.56 | Homo sapiens | Q9BT40 | - |
- |
EC Number | Source Tissue | Comment | Organism | Textmining |
---|---|---|---|---|
3.1.3.56 | skeletal muscle | - |
Danio rerio | - |
EC Number | Synonyms | Comment | Organism |
---|---|---|---|
3.1.3.56 | inositol polyphosphate-5-phosphatase Kb | - |
Danio rerio |
3.1.3.56 | INPP5K | - |
Homo sapiens |
3.1.3.56 | INPP5K | - |
Danio rerio |
EC Number | General Information | Comment | Organism |
---|---|---|---|
3.1.3.56 | physiological function | downregulation of INPP5K disrupts muscle fiber morphology and results in abnormal eye development | Danio rerio |