SACS (gene)

Spastic ataxia of Charlevoix-Saguenay (sacsin)
File:PBB Protein SACS image.jpg PDB rendering based on 1iur.
Available structures PDB Ortholog search: Template:Homologene2PDBe PDBe, Template:Homologene2uniprot RCSB List of PDB id codes 1iur​
Identifiers
Symbols	SACS ; ARSACS; DKFZp686B15167
External IDs	Template:OMIM5 Template:MGI HomoloGene: 8653
Gene ontology Molecular function Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Biological process Template:GNF GO Template:GNF GO
RNA expression pattern
File:PBB GE SACS 213262 at tn.png
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Spastic ataxia of Charlevoix-Saguenay (sacsin), also known as SACS, is a human gene.

Further reading

• Nagase T, Ishikawa K, Suyama M; et al. (1999). "Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 5 (5): 277–86. PMID 9872452.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Engert JC, Doré C, Mercier J; et al. (2000). "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. doi:10.1006/geno.1999.6003. PMID 10610707.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Engert JC, Bérubé P, Mercier J; et al. (2000). "ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF". Nat. Genet. 24 (2): 120–5. doi:10.1038/72769. PMID 10655055.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Mercier J, Prévost C, Engert JC; et al. (2002). "Rapid detection of the sacsin mutations causing autosomal recessive spastic ataxia of Charlevoix-Saguenay". Genet. Test. 5 (3): 255–9. doi:10.1089/10906570152742326. PMID 11788093.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Criscuolo C, Banfi S, Orio M; et al. (2004). "A novel mutation in SACS gene in a family from southern Italy". Neurology. 62 (1): 100–2. PMID 14718706.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Grieco GS, Malandrini A, Comanducci G; et al. (2004). "Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type". Neurology. 62 (1): 103–6. PMID 14718707.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ogawa T, Takiyama Y, Sakoe K; et al. (2004). "Identification of a SACS gene missense mutation in ARSACS". Neurology. 62 (1): 107–9. PMID 14718708.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Dunham A, Matthews LH, Burton J; et al. (2004). "The DNA sequence and analysis of human chromosome 13". Nature. 428 (6982): 522–8. doi:10.1038/nature02379. PMID 15057823.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Richter AM, Ozgul RK, Poisson VC, Topaloglu H (2005). "Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey". Neurogenetics. 5 (3): 165–70. doi:10.1007/s10048-004-0179-y. PMID 15156359.CS1 maint: Multiple names: authors list (link)
• Shimazaki H, Takiyama Y, Sakoe K; et al. (2006). "A phenotype without spasticity in sacsin-related ataxia". Neurology. 64 (12): 2129–31. doi:10.1212/01.WNL.0000166031.91514.B3. PMID 15985586.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Yamamoto Y, Hiraoka K, Araki M; et al. (2006). "Novel compound heterozygous mutations in sacsin-related ataxia". J. Neurol. Sci. 239 (1): 101–4. doi:10.1016/j.jns.2005.08.005. PMID 16198375.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ouyang Y, Takiyama Y, Sakoe K; et al. (2006). "Sacsin-related ataxia (ARSACS): expanding the genotype upstream from the gigantic exon". Neurology. 66 (7): 1103–4. doi:10.1212/01.wnl.0000204300.94261.ea. PMID 16606928.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Takado Y, Hara K, Shimohata T; et al. (2007). "New mutation in the non-gigantic exon of SACS in Japanese siblings". Mov. Disord. 22 (5): 748–9. doi:10.1002/mds.21365. PMID 17290461.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)