DNAJB6

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]

Full Name

DnaJ Heat Shock Protein Family (Hsp40) Member B6

Function

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.

Biological Process

Actin cytoskeleton organization Source: Ensembl
Chorio-allantoic fusion Source: Ensembl
Chorion development Source: Ensembl
Extracellular matrix organization Source: Ensembl
Intermediate filament organization Source: UniProtKB
Negative regulation of cysteine-type endopeptidase activity involved in apoptotic process Source: UniProtKB
Negative regulation of inclusion body assembly Source: UniProtKB
Negative regulation of transcription, DNA-templated Source: Ensembl
Protein folding Source: UniProtKB
Protein localization to nucleus Source: Ensembl
Regulation of cellular response to heat Source: Reactome
Regulation of protein localization Source: ParkinsonsUK-UCL
Syncytiotrophoblast cell differentiation involved in labyrinthine layer development Source: Ensembl

Cellular Location

Nucleus; Perinuclear region; Z line

Involvement in disease

Muscular dystrophy, limb-girdle, autosomal dominant 1 (LGMDD1):
The disease is caused by variants affecting the gene represented in this entry. There is evidence that LGMDD1 is caused by dysfunction of isoform B (PubMed:22366786). 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.