The SACS Polyclonal Antibody (PAC054202) is a valuable tool for researchers studying SACS, a protein associated with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). This antibody, produced in rabbits, exhibits high reactivity with human samples and has been validated for use in Western blot applications. By specifically binding to the SACS protein, researchers can accurately detect and analyze its expression in various cell types, making it an essential component in studies focusing on neurological disorders and genetic diseases.ARSACS is a rare neurodegenerative disorder characterized by early-onset cerebellar ataxia, spasticity, and peripheral neuropathy.
The SACS protein plays a crucial role in maintaining the function of nerve cells and mutations in the SACS gene have been linked to the development of ARSACS. By understanding the role of SACS in disease pathology, researchers can gain valuable insights into potential therapeutic targets for treating this debilitating condition. Overall, the SACS Polyclonal Antibody is a reliable tool for investigating the function of the SACS protein in neurodegenerative diseases, providing valuable information for the development of novel treatment strategies.
Immunohistochemistry of paraffin-embedded human brain tissue using PACO54202 at dilution of 1:100.
Immunofluorescence staining of A549 cells with PACO54202 at 1:200, counter-stained with DAPI. The cells were fixed in 4% formaldehyde, permeabilized using 0.2% Triton X-100 and blocked in 10% normal Goat Serum. The cells were then incubated with the antibody overnight at 4°C. The secondary antibody was Alexa Fluor 488-congugated AffiniPure Goat Anti-Rabbit IgG(H+L).
Immunohistochemistry of paraffin-embedded human placenta tissue using PACO54202 at dilution of 1:100.
Background:
Co-chaperone which acts as a regulator of the Hsp70 chaperone machinery and may be involved in the processing of other ataxia-linked proteins.
Synonyms:
Sacsin (DnaJ homolog subfamily C member 29) (DNAJC29), SACS, KIAA0730
UniProt Protein Function:
UniProt Protein Details:
NCBI Summary:
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). A pseudogene associated with this gene is located on chromosome 11. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]
