gene 930 words KG: SACS 2026-03-24
kind:genesection:genesstate:published
Contents

SACS Gene

🧬 Gene Info
Gene SymbolSACS
Functionencodes a very large multidomain protein involved in protein quality control and mitochondrial dynamics.
Molecular Weight520 kDa
Amino Acids579 aa
Ensembl IDENSG00000151835
GeneCardsSACS
Human Protein AtlasSACS
Protein foldingSRR domains assist in folding/refolding of client proteins, analogous to Hsp90
Protein quality controlParticipates in ubiquitin-proteasome-mediated degradation of misfolded substrates
DnaJ domainThe J-domain recruits Hsp70 chaperones to facilitate substrate processing
HEPN domainC-terminal higher eukaryotes and prokaryotes nucleotide-binding domain with potential nuclease function
Mitochondrial fissionPromotes DRP1-mediated mitochondrial fission
Network morphologyLoss of sacsin causes hyperfused, elongated mitochondrial networks
MitophagyRequired for efficient clearance of damaged mitochondria
Respiratory chainSacsin-deficient cells show impaired oxidative phosphorylation
Associated Diseasesneurodegeneration
KG Connections3 knowledge graph edges
DatabasesGeneCardsUniProtNCBI GeneHPASTRING

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