DNAJB6
Description
The DNAJB6 (DnaJ heat shock protein family (Hsp40) member B6) is a protein-coding gene located on chromosome 7.
DNAJB6 is a protein belonging to the DNAJ family, known for its role in protein folding and complex assembly. It is involved in polyglutamine aggregation in specific neurons. This gene produces multiple transcript variants, though not all have been fully characterized. DNAJB6 interacts with keratin 18 and has been shown to retard the aggregation of Aβ42, a process linked to Alzheimer's disease. Mutations in DNAJB6 can lead to limb-girdle muscular dystrophy type D1 (LGMDD1), characterized by protein aggregation and vacuolar myopathology.
DNAJB6 enhances the ATPase activity of HSP70 in a dose- and time-dependent manner, acting as a co-chaperone. It plays a crucial role in the organization of KRT8/KRT18 filaments. DNAJB6 acts as an endogenous chaperone for neuronal proteins, including huntingtin. It suppresses aggregation and toxicity of polyglutamine-containing proteins, reducing cellular toxicity and caspase-3 activity.
DNAJB6 is also known as DJ4, DnaJ, HHDJ1, HSJ-2, HSJ2, LGMD1D, LGMD1E, LGMDD1, MRJ, MSJ-1.
