SACS

sacsin molecular chaperone

Summary

This gene encodes the sacsin protein, which includes a UbL domain at the N-terminus, a DnaJ domain, and a HEPN domain at the C-terminus. The gene is highly expressed in the central nervous system, also found in skin, skeletal muscles and at low levels in the pancreas. This gene includes a very large exon spanning more than 12.8 kb. 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. The authors of a publication on the effects of siRNA-mediated sacsin knockdown concluded that sacsin protects against mutant ataxin-1 and suggest that "the large multi-domain sacsin protein is able to recruit Hsp70 chaperone action and has the potential to regulate the effects of other ataxia proteins" (Parfitt et al., PubMed: 19208651). A pseudogene associated with this gene is located on chromosome 11. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]

Known Variants3,273 total

rsidPosition (GRCh37)AllelesClassClinVar
rs14747666513:23,902,983T/A—uncertain significance
rs55804148213:23,903,075T/C—uncertain significance
rs188330320313:23,903,113G/C—uncertain significance
rs188330482013:23,903,133C/T—uncertain significance
rs13995614313:23,903,167C/T—uncertain significance
rs159311776213:23,903,236G/A—uncertain significance
rs88605006813:23,903,333T/C—uncertain significance
rs188331576813:23,903,356A/G—uncertain significance
rs7538972913:23,903,359A/T—uncertain significance
rs88605006913:23,903,393T/G—uncertain significance
rs14518412213:23,903,454T/C—conflicting classifications of pathogenicity
rs7764502113:23,903,498A/G—uncertain significance
rs188332690913:23,903,559A/C—uncertain significance
rs36823343613:23,903,564T/C—uncertain significance
rs18650547913:23,903,650A/T—uncertain significance
rs55493860513:23,903,706C/T—uncertain significance
rs477043313:23,903,791A/Gdownstream gene variantlikely benign
rs100349609613:23,903,814C/T—uncertain significance
rs95636076413:23,903,881C/T—uncertain significance
rs57686044513:23,903,968T/C—uncertain significance
rs57770383313:23,904,053A/G—uncertain significance
rs90784798613:23,904,057A/G—uncertain significance
rs76185575013:23,904,278C/T—likely benign
rs57199990813:23,904,280C/T—conflicting classifications of pathogenicity
rs75068853313:23,904,281T/C—likely benign
rs91652388713:23,904,283T/A—uncertain significance
rs77878235313:23,904,290C/T—likely benign
rs75243026813:23,904,292T/A—likely benign
rs94787003013:23,904,293A/G—likely benign
rs130940578813:23,904,296A/G—likely benign
rs3438295213:23,904,298T/G—conflicting classifications of pathogenicity
rs188337699213:23,904,299T/C—likely benign
rs254213357213:23,904,302A/T—likely benign
rs130475286713:23,904,311T/G—likely benign
rs254213371113:23,904,316T/C—uncertain significance
rs37572246313:23,904,321G/T—conflicting classifications of pathogenicity
rs77060018213:23,904,323A/G—likely benign
rs78052294613:23,904,329T/C—likely benign
rs213754757813:23,904,335C/A—likely benign
rs126677466613:23,904,341C/T—likely benign
rs143420978713:23,904,343T/C—likely benign
rs213754763313:23,904,344A/T—likely benign
rs213754764513:23,904,347A/G—likely benign
rs254213420413:23,904,355A/T—uncertain significance
rs92063976813:23,904,369T/C—uncertain significance
rs117891263113:23,904,370T/C—conflicting classifications of pathogenicity
rs74984644613:23,904,386G/C—likely benign
rs76926027713:23,904,394A/T—conflicting classifications of pathogenicity
rs77598707513:23,904,397C/T—likely benign
rs155524910613:23,904,400G/A—conflicting classifications of pathogenicity
rs92780492013:23,904,401G/T—pathogenic
rs76321203913:23,904,405C/T—conflicting classifications of pathogenicity
rs76919811513:23,904,415A/G—likely benign
rs77480694413:23,904,418T/C—likely benign
rs138841107413:23,904,425A/G—likely benign
rs213754797013:23,904,427C/A—uncertain significance
rs76760664013:23,904,428A/G—likely benign
rs213754803213:23,904,440T/C—likely benign
rs75041260013:23,904,441G/C—likely benign
rs76102596413:23,904,442T/C—likely benign
rs213754811213:23,904,446A/G—likely benign
rs76649765313:23,904,452A/G—conflicting classifications of pathogenicity
rs213754819713:23,904,458C/G—likely benign
rs135604980813:23,904,470T/C—likely benign
rs254213608413:23,904,472G/A—likely pathogenic
rs254213610713:23,904,473C/T—likely benign
rs155524913313:23,904,475G/A—uncertain significance
rs13832818113:23,904,477C/T—conflicting classifications of pathogenicity
rs159311899513:23,904,479A/G—likely benign
rs159311901913:23,904,482T/C—likely benign
rs76394356313:23,904,485C/T—likely benign
rs254213646113:23,904,489A/G—uncertain significance
rs143947236013:23,904,495T/C—uncertain significance
rs88605007013:23,904,503T/C—uncertain significance
rs74536156713:23,904,506A/C—likely benign
rs159311906713:23,904,509T/C—likely benign
rs75585030813:23,904,512T/G—conflicting classifications of pathogenicity
rs213754857813:23,904,515T/C—likely benign
rs20043916313:23,904,533T/G—likely benign
rs37036223513:23,904,539C/G—conflicting classifications of pathogenicity
rs77464760013:23,904,541C/T—uncertain significance
rs213754874413:23,904,542A/G—likely benign
rs19974415713:23,904,548G/A—likely benign
rs213754884113:23,904,551A/G—likely benign
rs156605434013:23,904,561A/G—uncertain significance
rs20143963813:23,904,572G/C—likely benign
rs254213826413:23,904,593G/A—likely benign
rs75133632713:23,904,596C/T—likely benign
rs254213833113:23,904,600C/T—pathogenic
rs75732659413:23,904,606T/C—conflicting classifications of pathogenicity
rs74596154113:23,904,610C/G—likely pathogenic
rs19086337113:23,904,618T/C—benign
rs188339391313:23,904,624T/A—likely pathogenic
rs254213886513:23,904,629C/T—likely benign
rs254213894413:23,904,635A/T—likely benign
rs99696823813:23,904,636G/C—likely benign
rs14891453613:23,904,641G/A—likely benign
rs74849949913:23,904,662T/C—likely benign
rs188339624313:23,904,663A/G—likely pathogenic
rs254213938213:23,904,665C/T—likely pathogenic

Showing 100 of 3,273 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.