Dnaj (DNAJB6) Human Recombinant Protein

This gene encodes a member of the DNAJ protein family. DNAJ family members are characterized by a highly conserved amino acid stretch called the 'J-domain' and function as one of the two major classes of molecular chaperones involved in a wide range of cellular events, such as protein folding and oligomeric protein complex assembly. This family member may also play a role in polyglutamine aggregation in specific neurons. Alternative splicing of this gene results in multiple transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]

DNAJB6: 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. Defects in DNAJB6 are the cause of limb-girdle muscular dystrophy type 1E (LGMD1E). An autosomal dominant myopathy characterized by adult onset of proximal muscle weakness, beginning in the hip girdle region and later progressing to the shoulder girdle region. There is evidence that LGMD1E is caused by dysfunction of isoform B (PubMed:22366786). 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Chaperone

Chromosomal Location of Human Ortholog: 7q36.3

Cellular Component: nucleoplasm; membrane; perinuclear region of cytoplasm; cytoplasm; nucleus; cytosol; Z disc

Molecular Function: ATPase activator activity; protein binding; heat shock protein binding; chaperone binding; unfolded protein binding

Biological Process: protein folding; positive regulation of ATPase activity; intermediate filament organization; negative regulation of caspase activity

Disease: Muscular Dystrophy, Limb-girdle, Type 1e