Anti-Sacsin Antibody Fluoro488 Conjugated

Sacsin also known as DnaJ homolog subfamily C member 29 (DNAJC29) is a protein that in humans is encoded by the SACS gene. This gene consists of nine exons including a gigantic exon spanning more than 12.8k bp. It encodes the sacsin protein, which includes a UBQ region at the N-terminus, a HEPN domain at the C-terminus and a DnaJ region upstream of the HEPN domain. This modular protein is essential for normal mitochondrial network organization. The gene is highly expressed in the central nervous system, also found in skin, skeletal muscles and at low levels in the pancreas. Mutations in this gene result in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), a neurodegenerative disorder characterized by early-onset cerebellar ataxia with spasticityand peripheral neuropathy.

Chaperones, Domain Families, Epigenetics and Nuclear Signaling, Hlh/Leucine Zipper, Metabolism, Mitochondrial Markers, Mitochondrial Metabolism, Pathways and Processes, Protein Trafficking, Signal Transduction, Transcription

1. Entrez Gene: SACS spastic ataxia of Charlevoix-Saguenay (sacsin) . 2. Engert JC, Doré C, Mercier J, Ge B, Bétard C, Rioux JD, Owen C, Bérubé P, Devon K, Birren B, Melançon SB, Morgan K, Hudson TJ, Richter A (December 1999) . Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) : high-resolution physical and transcript map of the candidate region in chromosome region 13q11. Genomics. 62 (2) : 156–64. 3. Parfitt DA, Michael GJ, Vermeulen EG, Prodromou NV, Webb TR, Gallo JM, Cheetham ME, Nicoll WS, Blatch GL, Chapple JP (May 2009) . The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1. Human Molecular Genetics. 18 (9) : 1556–65