rs1803014417
This variant is located in the HSPB1 gene.
▶ClinVar annotation
Charcot-Marie-Tooth disease axonal type 2F
View on ClinVar →About HSPB1
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]
View all HSPB1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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