功能： disease:Defects in SACS are the cause of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) [MIM:270550]. ARSACS is an early onset neurodegenerative disease with high prevalence in the Charlevoix-Saguenay-Lac-Saint-Jean region of Quebec. It is characterized by absent sensory-nerve conduction, reduced motor-nerve velocity and hypermyelination of retinal-nerve fibers.,function:May function in chaperone-mediated protein folding.,similarity:Contains 1 HEPN domain.,similarity:Contains 1 J domain.,tissue specificity:Highly expressed in the central nervous system. Also found in skeletal muscle and at low levels in pancreas.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cytoplasm . Predominantly cytoplasmic, a small portion is present in the nucleus and also shows a partial mitochondrial overlap with the mitochondrial marker Hsp60.
组织表达： Highly expressed in the central nervous system. Also found in skeletal muscle and at low levels in pancreas.
科研货号： PLA008315
SACS Polyclonal Antibody
Catalog NoPLA008315
Product information
基因名称： SACS KIAA0730
蛋白名称： Sacsin (DnaJ homolog subfamily C member 29) (DNAJC29)
功能： disease:Defects in SACS are the cause of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) [MIM:270550]. ARSACS is an early onset neurodegenerative disease with high prevalence in the Charlevoix-Saguenay-Lac-Saint-Jean region of Quebec. It is characterized by absent sensory-nerve conduction, reduced motor-nerve velocity and hypermyelination of retinal-nerve fibers.,function:May function in chaperone-mediated protein folding.,similarity:Contains 1 HEPN domain.,similarity:Contains 1 J domain.,tissue specificity:Highly expressed in the central nervous system. Also found in skeletal muscle and at low levels in pancreas.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cytoplasm . Predominantly cytoplasmic, a small portion is present in the nucleus and also shows a partial mitochondrial overlap with the mitochondrial marker Hsp60.
组织表达： Highly expressed in the central nervous system. Also found in skeletal muscle and at low levels in pancreas.
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