DISEASES

Disease-gene associations mined from literature

Literature associating DNAJB2 and Kennedy's disease

DNAJB2 [ENSP00000338019]

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 ...

Linkouts:  STRING  Pharos  UniProt  OMIM