Aliases for DNAJB6 Gene
External Ids for DNAJB6 Gene
Previous HGNC Symbols for DNAJB6 Gene
Previous GeneCards Identifiers for DNAJB6 Gene
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]
GeneCards Summary for DNAJB6 Gene
DNAJB6 (DnaJ Heat Shock Protein Family (Hsp40) Member B6) is a Protein Coding gene. Diseases associated with DNAJB6 include Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 and Autosomal Dominant Limb-Girdle Muscular Dystrophy. Among its related pathways are Mechanisms of CFTR activation by S-nitrosoglutathione (normal and CF) and Cellular response to heat stress. Gene Ontology (GO) annotations related to this gene include unfolded protein binding and heat shock protein binding. An important paralog of this gene is DNAJB7.
UniProtKB/Swiss-Prot Summary for DNAJB6 Gene
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.