Symbol: Name: ID: |
SACS spastic ataxia of Charlevoix-Saguenay (sacsin) GFS:458 |
Gene name: | SACS |
Chromosome: | 13q11 |
Previous Symbols: | |
Previous Names: | |
Aliases: | ARSACS, KIAA0730, DKFZp686B15167 |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:1354724 | Rat Genome Database ID: | |
HGNC ID: | HGNC:10519 | RefSeq IDs: | NM_014363 |
Entrez Gene ID: | 26278 | Ensembl Gene ID: | ENSG00000151835 |
VEGA IDs: | OTTHUMG00000016562 | UniProt ID: | Q9NZJ4 |
UCSC ID: | uc001uon.2 | OMIM ID: | 604490 |
Pubmed: | PMID10610707 | ||
CCDS IDs: | CCDSCCDS9300.2 |
SACS 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. 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. Alternatively spliced transcript variants encoding different isoforms have been found, but the full-length nature of these variants has not been determined.[provided by RefSeq]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.
Products for SACS gene
Catalog | Product Name | Application | Company |
GFS:E00458 | spastic ataxia of Charlevoix-Saguenay (sacsin); ELISA kit | ELISA | n/a |
GFS:A00458 | spastic ataxia of Charlevoix-Saguenay (sacsin); Anti | ANTIBODIES | n/a |
GFS:P00458 | spastic ataxia of Charlevoix-Saguenay (sacsin); Protien | Protien | n/a |