PDIA3 Chromosome 15
Protein disulfide isomerase family A member 3
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What This Gene Does
This gene encodes a protein of the endoplasmic reticulum that interacts with lectin chaperones calreticulin and calnexin to modulate folding of newly synthesized glycoproteins. The protein was once thought to be a phospholipase; however, it has been demonstrated that the protein actually has protein disulfide isomerase activity. It is thought that complexes of lectins and this protein mediate protein folding by promoting formation of disulfide bonds in their glycoprotein substrates. This protein also functions as a molecular chaperone that prevents the formation of protein aggregates. [provided by RefSeq, Dec 2016]
Gene Info
Gene Group
Protein disulfide isomerases
Locus Type
gene with protein product
Location
15q15.3
Ensembl
ENSG00000167004
Associated Conditions (1)
Intellectual disability
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1555455456 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, Intellectual disability |