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FLASH GENE
Symbol HSPD1 contributors: mct - updated : 28-03-2020
HGNC name heat shock 60kDa protein 1 (chaperonin)
HGNC id 5261
ASSOCIATED DISORDERS
corresponding disease(s) SPG13 , PMLD2
related resource MITOP database
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral     --over  
in ovarian cancer, pancreatic cancer, large bowel carcinoma (Tsai 2008)
tumoral     --low  
in clear cell renal cell carcinoma (ccRCC) (pMID: 31112866)
tumoral     --low  
in hepatocellular carcinoma tissues compared to peritumor tissues
tumoral     --over  
in glioblastoma patients
Susceptibility to sudden infant death syndrome (SIDS)
Variant & Polymorphism SNP
  • pathogenic variant of rs72466451 may play a role in a subgroup of SIDS cases with impaired HSPD1-mediated stress response
  • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerdigestiveliver
    might serve as a potential therapeutic target in the treatment of HCC
    cancerbrainglioma/neuroblstoma
    is a potential therapeutic target for glioblastoma treatment
    ANIMAL & CELL MODELS