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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

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

CMT2F

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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
	System Type Disorder Pubmed cancer     targeting HSPB1 might offer a useful strategy in cancer treatment neurology neurodegenerative   . PEP1-HSPB1 fusion protein may be a potential therapeutic agent for familial amyotrophic lateral sclerosis patients cancer digestive colon 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)