DNAJB6 encodes DnaJ heat shock protein family (Hsp40) member B6 (326 aa). 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. Highest expression in Muscle Skeletal (53.8 TPM) and Artery Tibial (48.0 TPM).

Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) is associated with mutations in the DNAJB6 gene on chromosome 7.

DNAJB6 is classified as a druggable target with score 0.0.

Genetic testing for DNAJB6 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 2 always present features, 1 very common feature, 5 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6).

4 publications have been identified in PubMed for autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6). Research spans Review / Meta-Analysis (25%), Basic Science / Preclinical (25%), and Epidemiology / Natural History (25%).

Recent Publications

• Hunn SM (2026). [PMID: 41962316](https://pubmed.ncbi.nlm.nih.gov/41962316/). *Neuromuscul Disord*. [Epidemiology / Natural History]

• Politano L (2024). [PMID: 38791328](https://pubmed.ncbi.nlm.nih.gov/38791328/). *International journal of molecular sciences*. [Review / Meta-Analysis]

• Findlay AR (2024). [PMID: 39501809](https://pubmed.ncbi.nlm.nih.gov/39501809/). *Disease models &amp; mechanisms*. [Gene Therapy / Novel Therapeutics]

• McKaige EA (2024). [PMID: 38621658](https://pubmed.ncbi.nlm.nih.gov/38621658/). *Human molecular genetics*. [Basic Science / Preclinical]