Gene Symbol | HSPB1 |
Entrez Gene ID | 3315 |
Full Name | heat shock protein family B (small) member 1 |
Synonyms | CMT2F,HEL-S-102,HMN2B,HS.76067,HSP27,HSP28,Hsp25,SRP27 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a member of the small heat shock protein (HSP20) family of proteins. In response to environmental stress, the encoded protein translocates from the cytoplasm to the nucleus and functions as a molecular chaperone that promotes the correct folding of other proteins. This protein plays an important role in the differentiation of a wide variety of cell types. Expression of this gene is correlated with poor clinical outcome in multiple human cancers, and the encoded protein may promote cancer cell proliferation and metastasis, while protecting cancer cells from apoptosis. Mutations in this gene have been identified in human patients with Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. [provided by RefSeq, Aug 2017]. |
Disorder MIM: | |
Disorder Html: | Neuropathy, distal hereditary motor, type IIB, 608634 (3); Charcot-Marie-Tooth disease, axonal, type 2F, 606595 (3) |