Literature associating DNAJB2 and Charcot-Marie-Tooth disease type 2B1
DnaJ (Hsp40) homolog, subfamily B, member 2; Functions as a co-chaperone, regulating the substrate binding and activating the ATPase activity of chaperones of the HSP70/heat shock protein 70 family. In parallel, also contributes to the ubiquitin- dependent proteasomal degradation of misfolded proteins. Thereby, may regulate the aggregation and promote the functional recovery of misfolded proteins like HTT, MC4R, PRKN, RHO and SOD1 and be crucial for many biological processes. Isoform 1 which is localized to the endoplasmic reticulum membranes may specifically function in ER-associated protein degradation of misfolded proteins.
Synonyms: DNAJB2, DNAJB2p, hDNAJB2, B4DF16, B4DJY6 ...