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, Jul 2008]

  • Protein phosphorylation
  • Cellular response to unfolded protein
  • Regulation of cellular response to heat
  • Positive regulation of aggrephagy
  • Neuronopathy, distal hereditary motor, type iia
  • Charcot-marie-tooth disease, axonal, type 2l
  • Charcot-marie-tooth disease type 2l
  • Distal hereditary motor neuronopathy type 2
  • Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome

Gene Location