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Sequence of this protein is as follows: KVCVNVHSFK PEELMVKTKD GYVEVSGKHE EKQQEGGIVS KNFTKKIQLP AEVDPVTVFA SLSPEGLLII EAPQVPPYST FGESSFNNEL PQDSQEVTCT
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.
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Protein Aliases: Alpha-crystallin C chain; DHMN 2; E2-induced gene 1 protein; heat shock 22kDa protein 8; heat shock 27kDa protein 8; Heat shock protein; Heat shock protein beta-8; Heat shock protein family B member 8; HMN 2; HSB8; HSP; HSPB 8; HspB8; OTTHUMP00000239768; Protein kinase H11; Small stress protein-like protein HSP22
Gene Aliases: CMT2L; CRYAC; DHMN2; E2IG1; H11; HMN2; HMN2A; HSP22; HSPB8; PP1629
UniProt ID: (Human) Q9UJY1
Entrez Gene ID: (Human) 26353
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