EDEM3 Chromosome 1
ER degradation enhancing alpha-mannosidase like protein 3
Upload your DNA to see your personal genotypes for variants in EDEM3.
What This Gene Does
Quality control in the endoplasmic reticulum (ER) ensures that only properly folded proteins are retained in the cell through recognition and degradation of misfolded or unassembled proteins. EDEM3 belongs to a group of proteins that accelerate degradation of misfolded glycoproteins in the ER (Hirao et al., 2006 [PubMed 16431915]).[supplied by OMIM, Mar 2008]
Gene Info
Gene Group
Mannosidases alpha class 1
Locus Type
gene with protein product
Location
1q25.3
Ensembl
ENSG00000116406
Associated Conditions (3)
Short stature
Congenital disorder of glycosylation
type 2v
Key Variants
RS1558053119
Likely pathogenic
Short stature, Short stature
Health Risk
RS1558054304
Likely pathogenic
Congenital disorder of glycosylation, type 2v, Congenital disorder of glycosylation
Health Risk
RS149304336
Pathogenic
Health Risk
RS1650036294
Pathogenic
Congenital disorder of glycosylation, type 2v, Congenital disorder of glycosylation
Health Risk
RS1650312698
Pathogenic
Congenital disorder of glycosylation, type 2v, Congenital disorder of glycosylation
Health Risk
RS2102068802
Pathogenic
Congenital disorder of glycosylation, type 2v, Congenital disorder of glycosylation
Health Risk
RS2102081225
Pathogenic
Congenital disorder of glycosylation, type 2v, Congenital disorder of glycosylation
Health Risk
RS2102081233
Pathogenic
Congenital disorder of glycosylation, type 2v, Congenital disorder of glycosylation
Health Risk
RS2102089507
Pathogenic
Congenital disorder of glycosylation, type 2v, Congenital disorder of glycosylation
Health Risk
RS2102093642
Pathogenic
Congenital disorder of glycosylation, type 2v, Congenital disorder of glycosylation
Health Risk
RS750470640
Pathogenic
Health Risk
RS777353823
Pathogenic
Congenital disorder of glycosylation, type 2v, Congenital disorder of glycosylation
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1558053119 | Health Risk | Likely pathogenic | Short stature, Short stature |
| RS1558054304 | Health Risk | Likely pathogenic | Congenital disorder of glycosylation, type 2v, Congenital disorder of glycosylation |
| RS149304336 | Health Risk | Pathogenic | — |
| RS1650036294 | Health Risk | Pathogenic | Congenital disorder of glycosylation, type 2v, Congenital disorder of glycosylation |
| RS1650312698 | Health Risk | Pathogenic | Congenital disorder of glycosylation, type 2v, Congenital disorder of glycosylation |
| RS2102068802 | Health Risk | Pathogenic | Congenital disorder of glycosylation, type 2v, Congenital disorder of glycosylation |
| RS2102081225 | Health Risk | Pathogenic | Congenital disorder of glycosylation, type 2v, Congenital disorder of glycosylation |
| RS2102081233 | Health Risk | Pathogenic | Congenital disorder of glycosylation, type 2v, Congenital disorder of glycosylation |
| RS2102089507 | Health Risk | Pathogenic | Congenital disorder of glycosylation, type 2v, Congenital disorder of glycosylation |
| RS2102093642 | Health Risk | Pathogenic | Congenital disorder of glycosylation, type 2v, Congenital disorder of glycosylation |
| RS750470640 | Health Risk | Pathogenic | — |
| RS777353823 | Health Risk | Pathogenic | Congenital disorder of glycosylation, type 2v, Congenital disorder of glycosylation |
| RS902837579 | Health Risk | Pathogenic | Congenital disorder of glycosylation, type 2v, Congenital disorder of glycosylation |