功能： disease:Defects in MFSD8 are the cause of neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951]. CNL are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The patterns most often observed CLN7 are mixed combinations of granular, curvilinear, fingerprint, and rectilinear profiles. The clinical course includes progressive dementia, seizures, and progressive visual failure.,function:May be a carrier that transport small solutes by using chemiosmotic ion gradients .,similarity:Belongs to the major facilitator superfamily.,tissue specificity:Expressed at very low levels in all tissues tested.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Lysosome membrane ; Multi-pass membrane protein . Sorting to lysosomes involves tyrosine- and/or dileucine-based motifs.
组织表达： Expressed at very low levels in all tissues tested.
科研货号： PLA008285
MFSD8 Polyclonal Antibody
Catalog NoPLA008285
Product information
基因名称： MFSD8 CLN7
蛋白名称： Major facilitator superfamily domain-containing protein 8 (Ceroid-lipofuscinosis neuronal protein 7)
功能： disease:Defects in MFSD8 are the cause of neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951]. CNL are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The patterns most often observed CLN7 are mixed combinations of granular, curvilinear, fingerprint, and rectilinear profiles. The clinical course includes progressive dementia, seizures, and progressive visual failure.,function:May be a carrier that transport small solutes by using chemiosmotic ion gradients .,similarity:Belongs to the major facilitator superfamily.,tissue specificity:Expressed at very low levels in all tissues tested.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Lysosome membrane ; Multi-pass membrane protein . Sorting to lysosomes involves tyrosine- and/or dileucine-based motifs.
组织表达： Expressed at very low levels in all tissues tested.
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