Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. Evgrafov OV, Mersiyanova I, Irobi J, Van Den Bosch L, Dierick I, Leung CL, Schagina O, Verpoorten N, Van Impe K, Fedotov V, Dadali E, Auer-Grumbach M, Windpassinger C, Wagner K, Mitrovic Z, Hilton-Jones D, Talbot K, Martin JJ, Vasserman N, Tverskaya S, Polyakov A, Liem RK, Gettemans J, Robberecht W, De Jonghe P, Timmerman V.Nat Genet. 2004 Jun;36(6):602-6. Epub 2004 May 2.
Western blot analysis of HSPB1 (arrow) using HSPB1 polyclonal antibody (Cat # PAB2048). 293 cell lysates (2 ug/lane) either nontransfected (Lane 1) or transiently transfected with the HSPB1 gene (Lane 2) (Origene Technologies).
Formalin-fixed and paraffin-embedded human breast carcinoma tissue reacted with HSPB1 polyclonal antibody (Cat # PAB2048) , which was peroxidase-conjugated to the secondary antibody, followed by DAB staining. This data demonstrates the use of this antibody for immunohistochemistry ; clinical relevance has not been evaluated.
The protein encoded by this gene is induced by environmental stress and developmental changes. The encoded protein is involved in stress resistance and actin organization and translocates from the cytoplasm to the nucleus upon stress induction. Defects in this gene are a cause of Charcot-Marie-Tooth disease type 2F (CMT2F) and distal hereditary motor neuropathy (dHMN). [provided by RefSeq
Other Designations:
OTTHUMP00000024846,estrogen-regulated 24 kDa protein,heat shock 27kD protein 1,heat shock protein beta-1,stress-responsive protein 27