GET3 Chromosome 19
Guided entry of tail-anchored proteins factor 3, ATPase
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What This Gene Does
This gene represents the human homolog of the bacterial arsA gene, encoding the arsenite-stimulated ATPase component of the arsenite transporter responsible for resistance to arsenicals. This protein is also a central component of a transmembrane domain (TMD) recognition complex (TRC) that is involved in the post-translational delivery of tail-anchored (TA) proteins from the cytosol to the endoplasmic reticulum (ER). It recognizes and selectively binds the TMD of TA proteins in the cytosol, and delivers them to the ER for insertion. [provided by RefSeq, Oct 2011]
Gene Info
Gene Group
"Guided entry of tail-anchored proteins complex subunits|GET4-GET5 transmembrane domain recognition complex subunits"
Locus Type
gene with protein product
Location
19p13.13
Ensembl
ENSG00000198356
Associated Conditions (3)
Cardiomyopathy
dilated
2H
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1568349715 | Health Risk | Pathogenic | Cardiomyopathy, dilated, 2H |