EC Number |
General Information |
Reference |
---|
3.1.1.118 | malfunction |
deleterious mutations in the enzyme cause the SPG28 subtype of the neurological disease Hereditary Spastic Paraplegia which is characterized by axonal neuropathy and gait impairments. Enzyme inactivation causes a substantial decrease in polyunsaturated lysophosphatidylinositol lipids and an corresponding increase in phosphatidylinositol lipids |
760595 |
3.1.1.118 | malfunction |
enzyme depletion causes enlargement of early endosomes and stimulated tabulation of recycling endosomes positive for phosphatidic acid-binding proteins syndapin2 and MICAL-L1. Enzyme knockout enhances transferrin recycling from recycling endosomes to the cell surface |
761130 |
3.1.1.118 | malfunction |
enzyme downregulation reduces in vitro colon cancer cell viability and increases apoptosis rate, without affecting normal cells |
761626 |
3.1.1.118 | malfunction |
enzyme gene disruption in mice causes sperm malformation due to mitochondrial organization defects |
761448 |
3.1.1.118 | malfunction |
enzyme mutations are responsible for hereditary spastic paraplegia |
762106 |
3.1.1.118 | malfunction |
enzyme mutations can lead to hereditary spastic paraplegia associated with retinal dystrophy and a pattern of neurodegeneration with brain iron accumulation |
750476 |
3.1.1.118 | malfunction |
the misregulation of the enzyme gene by Aft1/2 transcription factors alters cardiolipin metabolism and causes mitochondrial dysfunction in the cells |
761452 |
3.1.1.118 | metabolism |
overexpression of KIAA0725p causes dispersion of the endoplasmic reticulum-Golgi intermediate compartment and Golgi apparatus |
761430 |
3.1.1.118 | metabolism |
the enzyme regulates brain lysophospholipid and phosphatidylinositol content in vivo |
760595 |
3.1.1.118 | metabolism |
the phospholipase activity of the enzyme is required to allow access of the lipase to triglyceride molecules contained in the core of the lipid droplets |
761660 |