功能: catalytic activity:Phosphatidylcholine + H(2)O = 1-acylglycerophosphocholine + a carboxylate.,disease:Defects in PLA2G6 are a cause of neurodegeneration with brain iron accumulation (NBIA) [MIM:610217]. NBIA comprises a clinically and genetically heterogeneous group of disorders with high basal ganglia iron.,disease:Defects in PLA2G6 are the cause of infantile neuroaxonal dystrophy 1 (INAD1) [MIM:256600]; also known as Seitelberger disease. Infantile neuroaxonal dystrophy (INAD) is a neurodegenerative disease characterized by pathologic axonal swelling and spheroid bodies in the central nervous system. Onset is within the first 2 years of life with death by age 10 years.,disease:Defects in PLA2G6 are the cause of Karak syndrome [MIM:608395]. Karak syndrome is a neurologic disease characterized by early-onset progressive cerebellar ataxia, dystonia, spasticity, intellectual and features compatible with iron deposition in the putamen and substantia nigra.,function:Catalyzes the release of fatty acids from phospholipids. It has been implicated in normal phospholipid remodeling, nitric oxide-induced or vasopressin-induced arachidonic acid release and in leukotriene and prostaglandin production. May participate in fas mediated apoptosis and in regulating transmembrane ion flux in glucose-stimulated B-cells.,function:Isoform ankyrin-iPLA2-1 and isoform ankyrin-iPLA2-2, which lack the catalytic domain, are probably involved in the negative regulation of iPLA2 activity.,similarity:Contains 7 ANK repeats.,subunit:Forms large oligomeric 270-350 kDa structures.,tissue specificity:Four different transcripts were found to be expressed in a distinct tissue distribution.,
相关产品: RS0001,RS0002,YM3028,YM3029
细胞定位: Cytoplasm . Cell membrane . Mitochondrion . Cell projection, pseudopodium . Recruited to the membrane-enriched pseudopods upon MCP1/CCL2 stimulation in monocytes. .
组织表达: Four different transcripts were found to be expressed in a distinct tissue distribution.
功能: catalytic activity:Phosphatidylcholine + H(2)O = 1-acylglycerophosphocholine + a carboxylate.,disease:Defects in PLA2G6 are a cause of neurodegeneration with brain iron accumulation (NBIA) [MIM:610217]. NBIA comprises a clinically and genetically heterogeneous group of disorders with high basal ganglia iron.,disease:Defects in PLA2G6 are the cause of infantile neuroaxonal dystrophy 1 (INAD1) [MIM:256600]; also known as Seitelberger disease. Infantile neuroaxonal dystrophy (INAD) is a neurodegenerative disease characterized by pathologic axonal swelling and spheroid bodies in the central nervous system. Onset is within the first 2 years of life with death by age 10 years.,disease:Defects in PLA2G6 are the cause of Karak syndrome [MIM:608395]. Karak syndrome is a neurologic disease characterized by early-onset progressive cerebellar ataxia, dystonia, spasticity, intellectual and features compatible with iron deposition in the putamen and substantia nigra.,function:Catalyzes the release of fatty acids from phospholipids. It has been implicated in normal phospholipid remodeling, nitric oxide-induced or vasopressin-induced arachidonic acid release and in leukotriene and prostaglandin production. May participate in fas mediated apoptosis and in regulating transmembrane ion flux in glucose-stimulated B-cells.,function:Isoform ankyrin-iPLA2-1 and isoform ankyrin-iPLA2-2, which lack the catalytic domain, are probably involved in the negative regulation of iPLA2 activity.,similarity:Contains 7 ANK repeats.,subunit:Forms large oligomeric 270-350 kDa structures.,tissue specificity:Four different transcripts were found to be expressed in a distinct tissue distribution.,
相关产品: RS0001,RS0002,YM3028,YM3029
细胞定位: Cytoplasm . Cell membrane . Mitochondrion . Cell projection, pseudopodium . Recruited to the membrane-enriched pseudopods upon MCP1/CCL2 stimulation in monocytes. .
组织表达: Four different transcripts were found to be expressed in a distinct tissue distribution.