其他名称： CLN5; Ceroid-lipofuscinosis neuronal protein 5; Protein CLN5
实测条带： 48kD
信号通路： Lysosome;
功能： disease:Defects in CLN5 are the cause of ceroid lipofuscinosis neuronal 5 (CLN5) [MIM:256731]; also known as Finnish variant late-infantile neuronal ceroid lipofuscinosis (vLINCL). It is a fatal childhood neurodegenerative disease characterized by progressive visual and mental decline, motor disturbance, epilepsy and behavioral changes. The first symptom is motor clumsiness, followed by progressive visual failure, mental and motor deterioration and later by myoclonia and seizures.,online information:Neural Ceroid Lipofuscinoses mutation db,PTM:Glycosylated.,similarity:Belongs to the CLN5 family.,tissue specificity:Ubiquitous.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： [Ceroid-lipofuscinosis neuronal protein 5, secreted form]: Lysosome .; [Ceroid-lipofuscinosis neuronal protein 5]: Membrane ; Single-pass type II membrane protein . An amphipathic anchor region facilitates its association with the membrane. .
其他名称： CLN5; Ceroid-lipofuscinosis neuronal protein 5; Protein CLN5
实测条带： 48kD
信号通路： Lysosome;
功能： disease:Defects in CLN5 are the cause of ceroid lipofuscinosis neuronal 5 (CLN5) [MIM:256731]; also known as Finnish variant late-infantile neuronal ceroid lipofuscinosis (vLINCL). It is a fatal childhood neurodegenerative disease characterized by progressive visual and mental decline, motor disturbance, epilepsy and behavioral changes. The first symptom is motor clumsiness, followed by progressive visual failure, mental and motor deterioration and later by myoclonia and seizures.,online information:Neural Ceroid Lipofuscinoses mutation db,PTM:Glycosylated.,similarity:Belongs to the CLN5 family.,tissue specificity:Ubiquitous.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： [Ceroid-lipofuscinosis neuronal protein 5, secreted form]: Lysosome .; [Ceroid-lipofuscinosis neuronal protein 5]: Membrane ; Single-pass type II membrane protein . An amphipathic anchor region facilitates its association with the membrane. .
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