DNAJB6 gene

DnaJ heat shock protein family (Hsp40) member B6

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Limb-girdle muscular dystrophy, type 1E

From UniProt:

Muscular dystrophy, limb-girdle, autosomal dominant 1 (LGMDD1): 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. [MIM:603511]

Cytogenetic Location: 7q36.3, which is the long (q) arm of chromosome 7 at position 36.3

Molecular Location: base pairs 157,337,004 to 157,417,439 on chromosome 7 (Homo sapiens Updated Annotation Release 109.20200228, GRCh38.p13) (NCBI)

Cytogenetic Location: 7q36.3, which is the long (q) arm of chromosome 7 at position 36.3
  • DJ4
  • DnaJ
  • HHDJ1
  • HSJ-2
  • HSJ2
  • LGMD1D
  • LGMD1E
  • LGMDD1
  • MRJ
  • MSJ-1