DNAJB6

DNAJB6 (also known as MRJ/HSJ-2) is a class B Hsp40/J-domain protein (JDP) co-chaperone that stimulates the ATPase activity of Hsp70 family members and acts as a potent suppressor of amyloid-type protein aggregation. Unlike canonical foldase chaperones, DNAJB6 does not refold denatured proteins but instead exhibits holdase-like activity, preventing aggregation of polyglutamine-expanded proteins, tau, and other aggregation-prone substrates. It functions within the Hsp70 chaperone network, requiring its J-domain for anti-aggregation activity. DNAJB6 also plays roles in keratin filament organization; emerging preprint work suggests an additional nuclear-pore condensate surveillance context. Mutations in DNAJB6 cause limb-girdle muscular dystrophy type D1 (LGMDD1). Two major isoforms exist: DNAJB6a (long, predominantly nuclear) and DNAJB6b (short, largely cytosolic), with isoform B being particularly important for suppression of protein aggregation.

Disorders

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