Features include always present findings: Achilles tendon contracture, Impaired vibration sensation in the lower limbs, Difficulty climbing stairs, and Fatty replacement of skeletal muscle and others; and very common findings: Decreased compound muscle action potential amplitude. 30 total HPO annotations.

BAG3 encodes BAG cochaperone 3 (575 aa). Co-chaperone and adapter protein that connects different classes of molecular chaperones including heat shock proteins 70 (HSP70s), e.g. Highest expression in Muscle Skeletal (370.4 TPM) and Artery Aorta (139.2 TPM).

Charcot-Marie-tooth disease, axonal, type 2JJ is associated with mutations in the BAG3 gene on chromosome 10.

The BAG3 protein participates in CREB3L4 translocates from the cytosol to the nucleus pathway.

BAG3 is classified as a druggable target with score 0.0.

Genetic testing for BAG3 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 15 always present features, 1 very common feature, 3 common features.