功能： catalytic activity:ATP + 1-phosphatidyl-1D-myo-inositol 4-phosphate = ADP + 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate.,disease:Defects in PIKFYVE are the cause of corneal fleck dystrophy (CFD) [MIM:121850]. CFD is an autosomal dominant disorder of the cornea characterized by numerous small white flecks scattered in all levels of the stroma. Although CFD may occasionally cause mild photophobia, patients are typically asymptomatic and have normal vision.,function:Supports the intracellular PIP pool and to a lesser extent, the PI 4,5-P(2) pool. It generates PIP from PI and, to a lesser extent, PI 4,5-P(2) from PI 4-P. There are indications that it phosphorylates the D-5 rather than the D-4 position. Has a role in endosome-related membrane trafficking.,similarity:Contains 1 DEP domain.,similarity:Contains 1 FYVE-type zinc finger.,similarity:Contains 1 PI5K domain.,subcellular location:Mainly associated with membranes of the late endocytic pathway.,
相关产品： YT3734,YT3733,YP1162,KA4234C
细胞定位： Endosome membrane ; Peripheral membrane protein . Early endosome membrane ; Peripheral membrane protein. Cytoplasmic vesicle, phagosome membrane ; Peripheral membrane protein . Late endosome membrane ; Peripheral membrane protein . Mainly associated with membranes of the late endocytic pathway. .
功能： catalytic activity:ATP + 1-phosphatidyl-1D-myo-inositol 4-phosphate = ADP + 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate.,disease:Defects in PIKFYVE are the cause of corneal fleck dystrophy (CFD) [MIM:121850]. CFD is an autosomal dominant disorder of the cornea characterized by numerous small white flecks scattered in all levels of the stroma. Although CFD may occasionally cause mild photophobia, patients are typically asymptomatic and have normal vision.,function:Supports the intracellular PIP pool and to a lesser extent, the PI 4,5-P(2) pool. It generates PIP from PI and, to a lesser extent, PI 4,5-P(2) from PI 4-P. There are indications that it phosphorylates the D-5 rather than the D-4 position. Has a role in endosome-related membrane trafficking.,similarity:Contains 1 DEP domain.,similarity:Contains 1 FYVE-type zinc finger.,similarity:Contains 1 PI5K domain.,subcellular location:Mainly associated with membranes of the late endocytic pathway.,
相关产品： YT3734,YT3733,YP1162,KA4234C
细胞定位： Endosome membrane ; Peripheral membrane protein . Early endosome membrane ; Peripheral membrane protein. Cytoplasmic vesicle, phagosome membrane ; Peripheral membrane protein . Late endosome membrane ; Peripheral membrane protein . Mainly associated with membranes of the late endocytic pathway. .
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