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SACS encodes the sacsin protein, which includes a UbL domain at the N-terminus, a DnaJ domain, and a HEPN domain at the C-terminus. Additionally we are shipping and many more products for this protein.
Results indicate that the Sacs-/- mouse is a well-suited rodent model of the human condition and suggest that disruption of mitochondria organization and positioning cause autosomal recessive spastic ataxia (show USP14 ELISA Kits) of Charlevoix-Saguenay pathology.
The results are consistent with the HEPN domain contributing to the functional activity of sacsin by binding to nucleotides or other multiply charged anionic compounds in neurons.
Various SACS mutations have functional consequences on the mitochondrial compartment in ARSACS patients.
study reports an Italian family affected by an autosomal recessive form of hereditary spastic paraplegia (HSP) and peripheral neuropathy caused by a novel mutation in the SACS
To clarify the segregation pattern of the mutations found in this family, having excluded somatic mosaicism for the specific mutations, we fully reanalyzed the SACS gene
Whole-exome sequencing identified a hemizygous novel spastic ataxia (show USP14 ELISA Kits) of Charlevoix-Saguenay (SACS) stop-codon mutation in 2 brothers
Abnormal retinal thickening is a common feature in patients with SACS mutation phenotype.
Widespread tissue damage may be associated with extensive loss of sacsin protein in the brain and may explain a wide range of progressive neurologic abnormalities in patients with spastic ataxia (show USP14 ELISA Kits) of Charlevoix-Saguenay.
A novel missense mutation in sacsin, p.Arg272His, was identified in a patient with sacsin-related spastic ataxia (show USP14 ELISA Kits).
the relative position of mutations in subrepeats will variably influence sacsin dysfunction
We identified a new mutation in the SACS gene in Autosomal recessive cerebellar ataxia (show USP14 ELISA Kits)
This gene encodes the sacsin protein, which includes a UbL domain at the N-terminus, a DnaJ domain, and a HEPN domain at the C-terminus. The gene is highly expressed in the central nervous system, also found in skin, skeletal muscles and at low levels in the pancreas. This gene includes a very large exon spanning more than 12.8 kb. Mutations in this gene result in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), a neurodegenerative disorder characterized by early-onset cerebellar ataxia with spasticity and peripheral neuropathy. The authors of a publication on the effects of siRNA-mediated sacsin knockdown concluded that sacsin protects against mutant ataxin-1 and suggest that 'the large multi-domain sacsin protein is able to recruit Hsp70 chaperone action and has the potential to regulate the effects of other ataxia proteins' (Parfitt et al., PubMed: 19208651).
dnaJ homolog subfamily C member 29