其他名称： ATN1; D12S755E; DRPLA; Atrophin-1; Dentatorubral-pallidoluysian atrophy protein
实测条带： 130kD
功能： disease:Defects in ATN1 are the cause of dentatorubral-pallidoluysian atrophy (DRPLA) [MIM:125370]. DRPLA is an autosomal dominant neurodegenerative disorder characterized by a loss of neurons in the dentate nucleus, rubrum, glogus pallidus and Luys'body. Clinical features are myoclonus epilepsy, dementia, and cerebellar ataxia. Onset of the disease occurs usually in the second decade of life and death in the fourth.,polymorphism:The poly-Gln region of ATN1 is highly polymorphic (7 to 23 repeats) in the normal population and is expanded to about 49-75 repeats in DRPLA and HRS patients. Longer expansions result in earlier onset and more severe clinical manifestations of the disease.,subunit:Interacts with BAIAP2, WWP1, WWP2, WWP3 and RERE.,tissue specificity:Relatively high levels in the brain, ovary, testis and prostate. Lower levels in the liver, thymus and leukocytes.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Nucleus. Cytoplasm, perinuclear region. Cell junction . Shuttles between nucleus and cytoplasm. Colocalizes with FAT1 in the perinuclear area, at cell-cell junctions and leading edges of cells (By similarity). Colocalizes with MTG8 in discrete nuclear dots. Proteolytic fragment F1 appears to remain in nucleus. Fragment F2 is exported into the cytoplasm. Fragment F2 from mutant sequences with longer poly-Gln (polyQ) tracts are additionally located to the cytoplasmic membrane and to certain organelles. .
组织表达： Widely expressed in various tissues including heart, lung, kidney, ovary, testis, prostate, placenta, skeletal Low levels in the liver, thymus and leukocytes. In the adult brain, broadly expressed in amygdala, caudate nucleus, corpus callosum, hippocampus, hypothalamus, substantia nigra, subthalamic nucleus, and thalamus. High levels in fetal tissues, especially brain.
其他名称： ATN1; D12S755E; DRPLA; Atrophin-1; Dentatorubral-pallidoluysian atrophy protein
实测条带： 130kD
功能： disease:Defects in ATN1 are the cause of dentatorubral-pallidoluysian atrophy (DRPLA) [MIM:125370]. DRPLA is an autosomal dominant neurodegenerative disorder characterized by a loss of neurons in the dentate nucleus, rubrum, glogus pallidus and Luys'body. Clinical features are myoclonus epilepsy, dementia, and cerebellar ataxia. Onset of the disease occurs usually in the second decade of life and death in the fourth.,polymorphism:The poly-Gln region of ATN1 is highly polymorphic (7 to 23 repeats) in the normal population and is expanded to about 49-75 repeats in DRPLA and HRS patients. Longer expansions result in earlier onset and more severe clinical manifestations of the disease.,subunit:Interacts with BAIAP2, WWP1, WWP2, WWP3 and RERE.,tissue specificity:Relatively high levels in the brain, ovary, testis and prostate. Lower levels in the liver, thymus and leukocytes.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Nucleus. Cytoplasm, perinuclear region. Cell junction . Shuttles between nucleus and cytoplasm. Colocalizes with FAT1 in the perinuclear area, at cell-cell junctions and leading edges of cells (By similarity). Colocalizes with MTG8 in discrete nuclear dots. Proteolytic fragment F1 appears to remain in nucleus. Fragment F2 is exported into the cytoplasm. Fragment F2 from mutant sequences with longer poly-Gln (polyQ) tracts are additionally located to the cytoplasmic membrane and to certain organelles. .
组织表达： Widely expressed in various tissues including heart, lung, kidney, ovary, testis, prostate, placenta, skeletal Low levels in the liver, thymus and leukocytes. In the adult brain, broadly expressed in amygdala, caudate nucleus, corpus callosum, hippocampus, hypothalamus, substantia nigra, subthalamic nucleus, and thalamus. High levels in fetal tissues, especially brain.
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