DNAJB6

Chr 7

DnaJ heat shock protein family (Hsp40) member B6

Also known as: DJ4, DnaJ, HHDJ1, HSJ-2, HSJ2, LGMD1D, LGMD1E, LGMDD1

NCBI Gene: 10049 ENSG00000105993 UniProt: O75190

The DNAJB6 protein functions as a molecular chaperone involved in protein folding and oligomeric protein complex assembly, and may regulate polyglutamine aggregation in neurons. Mutations cause autosomal dominant limb-girdle muscular dystrophy type 1 through an unknown pathogenic mechanism. The high pLI score (0.85) and low LOEUF score (0.40) indicate this gene is highly intolerant to loss-of-function variants.

ResearchSummary from RefSeq, OMIM, UniProt

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMuscular dystrophy, limb-girdle, autosomal dominant 1

Clinical highlights

Gene-disease validity (ClinGen)

muscular dystrophy, limb-girdle, autosomal dominant · ADDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.40

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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