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Gene Review

SACS  -  sacsin molecular chaperone

Homo sapiens

Synonyms: ARSACS, DKFZp686B15167, DNAJC29, DnaJ homolog subfamily C member 29, KIAA0730, ...
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Disease relevance of SACS


High impact information on SACS

  • SACS is expressed in a variety of tissues, including the central nervous system [6].
  • We previously mapped the gene responsible for ARSACS to chromosome 13q11 and identified two ancestral haplotypes [6].
  • Light microscopy showed multiple vacuoles filled with acid-phosphatase-positive material; on ultrastructural examination there was abnormal accumulation of glycogen in membrane-bound sacs (secondary lysosomes), some of which also contained dark membranous of homogeneous material [7].
  • A novel domain - HEPN (higher eukarytoes and prokaryotes nucleotide-binding domain) - found in several bacterial species is also present in the human protein, sacsin, a chaperonin implicated in an early-onset neurodegenerative disease [8].
  • Vessel formation appears normal until hemorrhage occurs in yolk sacs and embryos [9].

Chemical compound and disease context of SACS


Biological context of SACS

  • The authors identified three new SACS mutations in two Italian patients whose phenotype closely matches that of Quebec cases, but without retinal striation [15].
  • They had a novel homozygous missense mutation (T987C) of the SACS gene, which resulted in a phenylalanine-to-serine substitution at amino acid residue 304 [16].
  • BACKGROUND: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a clinically homogenous disorder reported in Quebec caused by mutations in the SACS gene (chromosome 13q12) [2].
  • The patient had a novel homozygous 2-base pair deletion mutation (c.5988-9 del CT) of the SACS gene, but the genotype was different from that in our first family of this phenotype [3].
  • We identified two SACSmutations in ARSACS families that lead to protein truncation, consistent with haplotype analysis [6].

Anatomical context of SACS

  • An adaptor for continuous stimulation of the facial nerve (SACS) to be used with the WR-S8 Monitor/Stimulator during otologic surgery has been developed [17].
  • Chloroplasts contain a system of membrane sacs, the thylakoids, some of which are stacked to form grana (singular, granum), whereas others float freely in the stroma [18].
  • Sacs of everted hamster jejunum were incubated with fatty acid and monoglyceride in bile salt solutions either with or without added salts of calcium and magnesium [19].
  • In order to investigate the cytoprotective action of 16-16-dimethyl-prostaglandin E2 (16-16D), we studied its effect on sacs of isolated amphibian gastric mucosa known to ulcerate with high frequency in the absence of nutrient HCO3-. The actions of 16-16D, 2.85 X 10(-6) M, were also studied in an in vitro chamber [20].
  • Two-thirds of TEL-deficient yolk sacs at E9.5 lack vitelline vessels, yet possess capillaries, indicative of normal vasculogenesis [21].

Associations of SACS with chemical compounds

  • The authors identified a homozygous missense mutation (T7492C) in the SACS gene, which resulted in the substitution of arginine for tryptophan at amino acid residue 2498 (W2498R) [22].
  • Closed sacs of gastric mucosa, containing exogenous HCl and pepsin, readily ulcerated when incubated in Ringer solution devoid of HCO3-, but were effectively protected against ulceration when ambient HCO3- was present [23].
  • A similar effect was observed in sacs preincubated with guar gum (15 minutes) and exposed to glucose in a subsequent guar-free incubation [24].
  • The effect of two gel-forming polysaccharide gums, guar gum and Na-carboxymethyl-cellulose (CMC), on glucose transport in vitro was investigated using everted sacs of rat jejunum [24].
  • Everted sacs of rat jejunum preloaded with 14C-galactose were exposed to quercetin glycosides isolated from onions [25].

Other interactions of SACS


Analytical, diagnostic and therapeutic context of SACS

  • At present, the superficial adipocutaneous system (SACS) face lift is almost always associated with a lipostructure performed in the same operative session [27].
  • An adaptor has been developed for continuous stimulation (SACS) to be used with the new WR-S8, Monitor/Stimulation The SACS allows the microsurgical instruments and air drills to be electrified and to function as probe tips during surgical dissection [28].
  • The primary challenge was that SACS increased clinic visit time [29].
  • SACS can enhance clinician behavior to improve patient asthma self-management, but more studies are indicated to mitigate temporal constraints and evaluate impact on clinician and patient communication and behavior as well as clinical outcomes [29].
  • Viable zygotes were excised from embryo sacs by minimal enzymatic digestion and microdissection [30].


  1. Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey. Richter, A.M., Ozgul, R.K., Poisson, V.C., Topaloglu, H. Neurogenetics (2004) [Pubmed]
  2. Phenotypic features and genetic findings in sacsin-related autosomal recessive ataxia in Tunisia. El Euch-Fayache, G., Lalani, I., Amouri, R., Turki, I., Ouahchi, K., Hung, W.Y., Belal, S., Siddique, T., Hentati, F. Arch. Neurol. (2003) [Pubmed]
  3. An unusual case of a spasticity-lacking phenotype with a novel SACS mutation. Shimazaki, H., Sakoe, K., Niijima, K., Nakano, I., Takiyama, Y. J. Neurol. Sci. (2007) [Pubmed]
  4. Oncostatin M production by human dendritic cells in response to bacterial products. Suda, T., Chida, K., Todate, A., Ide, K., Asada, K., Nakamura, Y., Suzuki, K., Kuwata, H., Nakamura, H. Cytokine (2002) [Pubmed]
  5. Increased nuchal translucency as a marker for fetal chromosomal defects. Taipale, P., Hiilesmaa, V., Salonen, R., Ylöstalo, P. N. Engl. J. Med. (1997) [Pubmed]
  6. ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF. Engert, J.C., Bérubé, P., Mercier, J., Doré, C., Lepage, P., Ge, B., Bouchard, J.P., Mathieu, J., Melançon, S.B., Schalling, M., Lander, E.S., Morgan, K., Hudson, T.J., Richter, A. Nat. Genet. (2000) [Pubmed]
  7. Adult-onset acid maltase deficiency. Morphologic and biochemical abnormalities reproduced in in cultured muscle. Askanas, V., Engel, W.K., DiMauro, S., Brooks, B.R., Mehler, M. N. Engl. J. Med. (1976) [Pubmed]
  8. HEPN: a common domain in bacterial drug resistance and human neurodegenerative proteins. Grynberg, M., Erlandsen, H., Godzik, A. Trends Biochem. Sci. (2003) [Pubmed]
  9. A murine model of hereditary hemorrhagic telangiectasia. Bourdeau, A., Dumont, D.J., Letarte, M. J. Clin. Invest. (1999) [Pubmed]
  10. Phospholipids as multidrug resistance modulators of the transport of epirubicin in human intestinal epithelial Caco-2 cell layers and everted gut sacs of rats. Lo, Y.L. Biochem. Pharmacol. (2000) [Pubmed]
  11. Effects of sodium deoxycholate and sodium caprate on the transport of epirubicin in human intestinal epithelial Caco-2 cell layers and everted gut sacs of rats. Lo, Y.L., Huang, J.D. Biochem. Pharmacol. (2000) [Pubmed]
  12. Intestinal absorption of vitamin E in experimental renal failure. Pahl, M.V., Vaziri, N.D., Benavides, I., Khamiseh, G., Oveisi, F. Proc. Soc. Exp. Biol. Med. (1990) [Pubmed]
  13. The role of mineralized tissue in the buffering of lactic acid during anoxia and exercise in the leopard frog Rana pipiens. Warren, D.E., Jackson, D.C. J. Exp. Biol. (2005) [Pubmed]
  14. Development, pharmacology and clinical experience with clomiphene citrate. Dickey, R.P., Holtkamp, D.E. Hum. Reprod. Update (1996) [Pubmed]
  15. Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type. Grieco, G.S., Malandrini, A., Comanducci, G., Leuzzi, V., Valoppi, M., Tessa, A., Palmeri, S., Benedetti, L., Pierallini, A., Gambelli, S., Federico, A., Pierelli, F., Bertini, E., Casali, C., Santorelli, F.M. Neurology (2004) [Pubmed]
  16. A phenotype without spasticity in sacsin-related ataxia. Shimazaki, H., Takiyama, Y., Sakoe, K., Ando, Y., Nakano, I. Neurology (2005) [Pubmed]
  17. Adaptor for continuous stimulation (SACS) with the WR-S8 monitor-stimulator. Silverstein, H. Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery. (1990) [Pubmed]
  18. Why do thylakoid membranes from higher plants form grana stacks? Trissl, H.W., Wilhelm, C. Trends Biochem. Sci. (1993) [Pubmed]
  19. Effects of calcium and magnesium ions upon fat absorption by sacs of everted hamster intestine. Strauss, E.W. Gastroenterology (1977) [Pubmed]
  20. Effect of 16-16-dimethyl-prostaglandin E2 on ulceration of isolated amphibian gastric mucosa. Barzilai, A., Schiessel, R., Kivilaakso, E., Matthews, J.B., Fleischer, L.A., Bartzokis, G., Silen, W. Gastroenterology (1980) [Pubmed]
  21. Yolk sac angiogenic defect and intra-embryonic apoptosis in mice lacking the Ets-related factor TEL. Wang, L.C., Kuo, F., Fujiwara, Y., Gilliland, D.G., Golub, T.R., Orkin, S.H. EMBO J. (1997) [Pubmed]
  22. Identification of a SACS gene missense mutation in ARSACS. Ogawa, T., Takiyama, Y., Sakoe, K., Mori, K., Namekawa, M., Shimazaki, H., Nakano, I., Nishizawa, M. Neurology (2004) [Pubmed]
  23. Contribution of ambient HCO3- to mucosal protection and intracellular pH in isolated amphibian gastric mucosa. Kivilaakso, E. Gastroenterology (1983) [Pubmed]
  24. Effect of gel-forming gums on the intestinal unstirred layer and sugar transport in vitro. Johnson, I.T., Gee, J.M. Gut (1981) [Pubmed]
  25. Quercetin glucosides interact with the intestinal glucose transport pathway. Gee, J.M., DuPont, M.S., Rhodes, M.J., Johnson, I.T. Free Radic. Biol. Med. (1998) [Pubmed]
  26. Recent advances in hereditary spastic paraplegia. Tallaksen, C.M., Dürr, A., Brice, A. Curr. Opin. Neurol. (2001) [Pubmed]
  27. Volumetric face lifting. Trepsat, F. Plast. Reconstr. Surg. (2001) [Pubmed]
  28. Continuous electrical stimulation as a helpful adjunct during intraoperative facial nerve monitoring. Herbert, S., White, D.W. Skull base surgery (1991) [Pubmed]
  29. Computer-based decision support for pediatric asthma management: description and feasibility of the Stop Asthma Clinical System. Shegog, R., Bartholomew, L.K., Sockrider, M.M., Czyzewski, D.I., Pilney, S., Mullen, P.D., Abramson, S.L. Health informatics journal (2006) [Pubmed]
  30. Isolated maize zygotes mimic in vivo embryonic development and express microinjected genes when cultured in vitro. Leduc, N., Matthys-Rochon, E., Rougier, M., Mogensen, L., Holm, P., Magnard, J.L., Dumas, C. Dev. Biol. (1996) [Pubmed]
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