SACS (gene)

From Wikipedia, the free encyclopedia

Spastic ataxia of Charlevoix-Saguenay (sacsin)

PDB rendering based on 1iur.

Available structures: 1iur

Identifiers

Symbol(s)

SACS; ARSACS; DKFZp686B15167

External IDs

OMIM: 604490 MGI: 1354724 HomoloGene: 8653

Gene ontology
Molecular Function:	• molecular_function • heat shock protein binding
Cellular Component:	• cellular_component
Biological Process:	• protein folding • protein modification process

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

n/a

n/a

Refseq

NM_014363 (mRNA)
NP_055178 (protein)

NM_172809 (mRNA)
NP_766397 (protein)

Location

Chr 13: 22.8 - 22.88 Mb

n/a

Pubmed search

[1]

[2]

Spastic ataxia of Charlevoix-Saguenay (sacsin), also known as SACS, is a human gene.^[1]

[edit] References

^ Entrez Gene: SACS spastic ataxia of Charlevoix-Saguenay (sacsin).

[edit] 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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.