Features include always present findings: Feeding difficulties, Reduced left ventricular ejection fraction, Tachypnea, and Muscular ventricular septal defect; and common findings: Secundum atrial septal defect and Cardiorespiratory arrest.

GET3 encodes guided entry of tail-anchored proteins factor 3, ATPase (348 aa). ATPase required for the post-translational delivery of tail-anchored (TA) proteins to the endoplasmic reticulum. Highest expression in Testis (123.8 TPM) and Cells Cultured fibroblasts (116.6 TPM).

Cardiomyopathy, dilated, 2H has limited evidence linking it to mutations in the GET3 gene on chromosome 19.

The GET3 protein participates in Insertion of tail-anchored proteins into the endoplasmic reticulum membrane pathway.

GET3 is classified as a druggable target (Transporter category) with score 0.0.

Genetic testing for GET3 is available. Testing is considered research-grade for diagnosis.

Phenotype severity distribution: 4 always present features, 2 common features.

No clinical trials have been registered for cardiomyopathy, dilated, 2H.

1 publication has been identified in PubMed for cardiomyopathy, dilated, 2H. Research spans Basic Science / Preclinical (100%).

Recent Publications

• Salehi A (2025). [PMID: 40086543](https://pubmed.ncbi.nlm.nih.gov/40086543/). *Int J Biol Macromol*. [Basic Science / Preclinical]