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FLASH GENE
Symbol HSPB1 contributors: mct/pgu - updated : 09-05-2016
HGNC name heat shock 27kDa protein 1
HGNC id 5246
ASSOCIATED DISORDERS
corresponding disease(s) CMT2F
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral     --over  
in gastric cancer
constitutional     --low  
in atherosclerotic plaques
constitutional     --over  
in acute coronary syndrome
tumoral     --over  
is increased in chroni pancreatitis and pancreatic carcinoma
tumoral     --over  
in angiogenic human breast cancer cells compared with nonangiogenic human breast cancer cells
tumoral     --low  
aberrant promoter hypermethylation of the HSPB1 gene may explain the reduced expression of HSPB1 noted in oral cancer cells
Susceptibility
  • lower lymphocyte HSPB1 levels might be associated with an increased risk of lung cancer
  • Variant & Polymorphism
    Candidate gene
  • defects in these gene are cause of distal hereditary motor neuropathy
  • expression of HSPB1 is an accurate and independent predictive biomarker of aggressive disease with a poor clinical outcome in prostate cancer without ETS-gene rearrangement
  • potentail novel serum marker for the diagnosis of chronic obstructive pulmonary disease in the smoking population
  • altered expression of this protein in testes showing abnormal spermatogenesis may be related to the pathogenesis of male infertility
  • Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancer  
    targeting HSPB1 might offer a useful strategy in cancer treatment
    neurologyneurodegenerative 
    . PEP1-HSPB1 fusion protein may be a potential therapeutic agent for familial amyotrophic lateral sclerosis patients
    cancerdigestivecolon
    may be a clinical target in patients with 5-FU-resistant colon cancer
    cancer  
    target for interrupting signaling from membrane sex steroid receptors to tumor biology in hormone-responsive cancers
    ANIMAL & CELL MODELS
  • HspB1-deficient murine fibroblasts exhibit reduced entry into S phase and increased expression of cyclin-dependent kinase inhibitors p27(kip1) and p21(waf1)