heat shock 22kDa protein 8, HSPB8
"Charcot-Marie-Tooth disease, axonal, type 2L, Charcot-Marie-Tooth disease, spinal, heat shock 27kDa protein 8, hereditary motor neuropathy, distal, protein kinase H11, small stress protein-like protein HSP22, spinal muscular atrophy, distal, adult, autos

  Background  
The protein encoded by this gene belongs to the superfamily of small heat-shock proteins containing a conservative alpha-crystallin domain at the C-terminal part of the molecule. The expression of this gene in induced by estrogen in estrogen receptor-positive breast cancer cells, and this protein also functions as a chaperone in association with Bag3, a stimulator of macroautophagy. Thus, this gene appears to be involved in regulation of cell proliferation, apoptosis, and carcinogenesis, and mutations in this gene have been associated with different neuromuscular diseases, including Charcot-Marie-Tooth disease. [provided by RefSeq].

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  Gene/Protein Information