Spastic Ataxia of Charlevoix-Saguenay (Sacsin) (SACS) ELISA Kits

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.

list all ELISA KIts Gene Name GeneID UniProt
Anti-Mouse SACS SACS 50720 Q9JLC8
Anti-Human SACS SACS 26278 Q9NZJ4
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More ELISA Kits for Spastic Ataxia of Charlevoix-Saguenay (Sacsin) Interaction Partners

Mouse (Murine) Spastic Ataxia of Charlevoix-Saguenay (Sacsin) (SACS) interaction partners

  1. 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 of Charlevoix-Saguenay pathology.

Human Spastic Ataxia of Charlevoix-Saguenay (Sacsin) (SACS) interaction partners

  1. This study provides a potential genetic diagnosis for the patient and expands the spectrum of SACS mutations.

  2. We established a genetic diagnosis in six families with autosomal recessive HSP (SPG11 (show SPG11 ELISA Kits) in three families and TFG/SPG57, SACS and ALS2 (show ALS2 ELISA Kits) in one family each). A heterozygous mutation in a gene involved in an autosomal dominant HSP (ATL1/SPG3A (show ATL1 ELISA Kits)) was also identified in one additional family

  3. 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.

  4. Various SACS mutations have functional consequences on the mitochondrial compartment in ARSACS patients.

  5. 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

  6. 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

  7. Whole-exome sequencing identified a hemizygous novel spastic ataxia of Charlevoix-Saguenay (SACS) stop-codon mutation in 2 brothers

  8. Abnormal retinal thickening is a common feature in patients with SACS mutation phenotype.

  9. 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 of Charlevoix-Saguenay.

  10. A novel missense mutation in sacsin, p.Arg272His, was identified in a patient with sacsin-related spastic ataxia.

Spastic Ataxia of Charlevoix-Saguenay (Sacsin) (SACS) Antigen Profile

Antigen 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).

Gene names and symbols associated with SACS

  • sacsin (Sacs) antibody
  • spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS) antibody
  • A230052M14 antibody
  • ARSACS antibody
  • DNAJC29 antibody
  • E130115J16Rik antibody
  • mKIAA0730 antibody

Protein level used designations for SACS

dnaJ homolog subfamily C member 29 , sacsin

50720 Mus musculus
26278 Homo sapiens
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