Aliases for HSPB1 Gene
External Ids for HSPB1 Gene
Previous GeneCards Identifiers for HSPB1 Gene
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]
GeneCards Summary for HSPB1 Gene
HSPB1 (Heat Shock Protein Family B (Small) Member 1) is a Protein Coding gene. Diseases associated with HSPB1 include Charcot-Marie-Tooth Disease, Axonal, Type 2F and Neuronopathy, Distal Hereditary Motor, Type Iib. Among its related pathways are RET signaling and TGF-Beta Pathway. Gene Ontology (GO) annotations related to this gene include protein kinase binding. An important paralog of this gene is CRYAB.
UniProtKB/Swiss-Prot Summary for HSPB1 Gene
Small heat shock protein which functions as a molecular chaperone probably maintaining denatured proteins in a folding-competent state (PubMed:10383393, PubMed:20178975). Plays a role in stress resistance and actin organization (PubMed:19166925). Through its molecular chaperone activity may regulate numerous biological processes including the phosphorylation and the axonal transport of neurofilament proteins (PubMed:23728742).