LP208414-5
SACS gene
Active
Description
The SACS gene (sacsin molecular chaperone) [HGNC Gene ID:10519] is located on chromosome 13q12. 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., PMID: 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] [NCBI Gene ID:26278] Source: National Center for Biotechnology Information (NCBI) Gene
Basic Part Properties
- Part Name
- SACS gene
- Part Display Name
- SACS gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2016-03-17
- Construct for LOINC Short Name
- SACS
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | SACS 基因 Synonyms: Sacsin 分子伴侣; |
| es-ES | Spanish (Spain) | Gen SACS |
| it-IT | Italian (Italy) | gene SACS |
| nl-NL | Dutch (Netherlands) | SACS-gen Synonyms: SACS gen |
| fr-FR | French (France) | SACS gène |
| pl-PL | Polish (Poland) | SACS gen Synonyms: Gen SACS |
| el-GR | Greek (Greece) | Γονίδιο SACS Synonyms: Γονίδιο SACS |
LOINC Copyright
Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://