Description
Product Characteristics:
Hsp22 (HSPB8) is a 196-amino acid protein that contains a central portion homologous to a highly conserved HSP-alpha crystallin domain common to all the small heat shock protein (HSP20) family members. Hsp22 is a monomeric protein which interacts with HSPB1. It displays temperature-dependent chaperone activity. The highest abundance of Hsp22 is in skeletal muscle, heart, and placenta. Mutations in the HSPB8 gene are associated with the inherited peripheral neuropathies, autosomal dominant distal hereditary motor neuropathy type IIA (dSMA) and axonal Charcot-Marie-Tooth disease type 2L (CMT2L).
Subcellular location: Cytoplasm, Nucleus
Synonyms: CMT2L, CRYAC, DHMN 2, DHMN2, E2 induced gene 1 protein, E2IG1, H11, Heat shock 22 kDa protein 8, Heat shock protein 22, Heat shock protein beta 8, Hereditary motor neuropathy distal, HMN 2, HMN2, HSB8, HSPB 8, HSPB8, Protein kinase H11, Small stress protein like protein HSP22, Spinal muscular atrophy distal adult autosomal dominant, Alpha crystallin C chain, Charcot Marie Tooth disease axonal type 2L, Charcot Marie Tooth disease spinal.
Target Information: 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]