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Sacsin

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SACS
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesSACS, ARDNAJC29, PPP1R138, SPAX6, sacsin molecular chaperone
External IDsOMIM: 604490; MGI: 1354724; HomoloGene: 8653; GeneCards: SACS; OMA:SACS - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001278055
NM_014363
NM_152752

NM_015788
NM_172809

RefSeq (protein)

NP_001264984
NP_055178

NP_766397
NP_056603

Location (UCSC)Chr 13: 23.29 – 23.43 MbChr 14: 61.38 – 61.48 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Sacsin also known as DnaJ homolog subfamily C member 29 (DNAJC29) is a protein that in humans is encoded by the SACS gene.[5][6] Sacsin is a Hsp70 co-chaperone.[7]

Function

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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.[8] 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 spasticity and peripheral neuropathy.[6]

Clinical significance

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Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a very rare neurodegenerative genetic disorder that results from mutations in the gene that produces Sacsin. Afflicted persons suffer from loss of balance, loss of muscle control and spasticity.[9]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000151835Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000048279Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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. doi:10.1006/geno.1999.6003. PMID 10610707.
  6. ^ a b "Entrez Gene: SACS spastic ataxia of Charlevoix-Saguenay (sacsin)".
  7. ^ 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. doi:10.1093/hmg/ddp067. PMC 2667285. PMID 19208651.
  8. ^ Bradshaw TY, Romano LE, Duncan EJ, Nethisinghe S, Abeti R, Michael GJ, Giunti P, Vermeer S, Chapple JP (June 2016). "A reduction in Drp1-mediated fission compromises mitochondrial health in autosomal recessive spastic ataxia of Charlevoix Saguenay". Human Molecular Genetics. 25 (15): 3232–3244. doi:10.1093/hmg/ddw173. PMC 5179924. PMID 27288452.
  9. ^ "ARSACS". Genetics Home Reference. Retrieved 19 January 2017.

Further reading

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This article incorporates text from the United States National Library of Medicine, which is in the public domain.