功能： catalytic activity:ATP + H(2)O = ADP + phosphate.,disease:Defects in ATP13A2 are the cause of Kufor-Rakeb syndrome (KRS) [MIM:606693]; also known as Parkinson disease-9. KRS is a rare hereditary disease with juvenile onset. In addition to typical signs of Parkinson disease, affected individuals show symptoms of more widespread neurodegeneration, including dementia.,similarity:Belongs to the cation transport ATPase (P-type) family.,similarity:Belongs to the cation transport ATPase (P-type) family. Type V subfamily.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Lysosome membrane ; Multi-pass membrane protein . Late endosome membrane ; Multi-pass membrane protein . Endosome, multivesicular body membrane ; Multi-pass membrane protein . Cytoplasmic vesicle, autophagosome membrane ; Multi-pass membrane protein .
组织表达： Expressed in brain; protein levels are markedly increased in brain from subjects with Parkinson disease and subjects with dementia with Lewy bodies. Detected in pyramidal neurons located throughout the cingulate cortex (at protein level). In the substantia nigra, it is found in neuromelanin-positive dopaminergic neurons (at protein level).
功能： catalytic activity:ATP + H(2)O = ADP + phosphate.,disease:Defects in ATP13A2 are the cause of Kufor-Rakeb syndrome (KRS) [MIM:606693]; also known as Parkinson disease-9. KRS is a rare hereditary disease with juvenile onset. In addition to typical signs of Parkinson disease, affected individuals show symptoms of more widespread neurodegeneration, including dementia.,similarity:Belongs to the cation transport ATPase (P-type) family.,similarity:Belongs to the cation transport ATPase (P-type) family. Type V subfamily.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Lysosome membrane ; Multi-pass membrane protein . Late endosome membrane ; Multi-pass membrane protein . Endosome, multivesicular body membrane ; Multi-pass membrane protein . Cytoplasmic vesicle, autophagosome membrane ; Multi-pass membrane protein .
组织表达： Expressed in brain; protein levels are markedly increased in brain from subjects with Parkinson disease and subjects with dementia with Lewy bodies. Detected in pyramidal neurons located throughout the cingulate cortex (at protein level). In the substantia nigra, it is found in neuromelanin-positive dopaminergic neurons (at protein level).
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