Disease-gene associations mined from literature

Literature associating DNAJB6 and GNE myopathy

DNAJB6 [ENSP00000262177]

DnaJ (Hsp40) homolog, subfamily B, member 6; Plays an indispensable role in the organization of KRT8/KRT18 filaments. Acts as an endogenous molecular chaperone for neuronal proteins including huntingtin. Suppresses aggregation and toxicity of polyglutamine-containing, aggregation-prone proteins. Isoform B but not isoform A inhibits huntingtin aggregation. Has a stimulatory effect on the ATPase activity of HSP70 in a dose-dependent and time-dependent manner and hence acts as a co-chaperone of HSP70. Also reduces cellular toxicity and caspase-3 activity; DNAJ heat shock proteins

Synonyms:  DNAJB6,  DNAJB6p,  hDNAJB6,  C9J2C4,  C9J2P2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM