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 | metabolism |
overexpression of KIAA0725p causes dispersion of the endoplasmic reticulum-Golgi intermediate compartment and Golgi apparatus |
761430 |
| 3.1.1.118 | physiological function |
the activity of the enzyme is necessary for the prevention of neurite elongation. The enzyme negatively controls the formation of a local phosphatidic acid-rich domain in recycling endosomes that serves as a membrane source for neurite outgrowth |
761130 |
| 3.1.1.118 | physiological function |
the enzyme plays a regulatory role in spermatogenesis or sperm function |
762298 |
| 3.1.1.118 | metabolism |
the enzyme regulates brain lysophospholipid and phosphatidylinositol content in vivo |
760595 |
