GET3
Chr 19ARguided entry of tail-anchored proteins factor 3, ATPase
Also known as: ARSA-I, ARSA1, ASNA-I, ASNA1, CMD2H, TRC40
The GET3 protein functions as an ATPase that delivers tail-anchored proteins from the cytosol to the endoplasmic reticulum by recognizing their transmembrane domains and facilitating their membrane insertion through ATP-dependent conformational changes. Biallelic mutations cause autosomal recessive dilated cardiomyopathy, though the complete phenotypic spectrum remains to be fully defined. The gene shows high constraint against loss-of-function variants, suggesting mutations predominantly cause disease through loss of function.
Limited evidence — not for standalone diagnostic reporting
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
GET3 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools