SACS

sacsin molecular chaperone

Details

HGNC
HGNC:10519
GeneCards
SACS
NCBI
26278
Ensembl
ENSG00000151835
UniProt
Q9NZJ4
OMIM
604490
UCSC
uc001uon.3
VEGA
OTTHUMG00000016562
ENA
AF193556

Alias Symbols
ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138
Previous Symbols
None
Alias Names
"protein phosphatase 1, regulatory subunit 138"
Previous Names
"spastic ataxia of Charlevoix-Saguenay (sacsin)"

Associated Studies

Transcriptional reprogramming primes CD8+ T cells toward exhaustion in Myalgic encephalomyelitis/chronic fatigue syndrome

2024 | Iu, David S.; Maya, Jessica; Vu, Luyen T.; Fogarty, Elizabeth A.; McNairn, Adrian J.; Ahmed, Faraz; Franconi, Carl J.; Munn, Paul R.; Grenier, Jennifer K.; Hanson, Maureen R.; Grimson, Andrew

Associated cohorts
Phenotype: ME/CFS, ME/CFS - CCC criteria, ME/CFS - IOM (Institute of Medicine) 2015 criteria, Post-exertional malaise (PEM)