EDEM1
ER degradation enhancing alpha-mannosidase like protein 1
Summary
Enables mannosyl-oligosaccharide 1,2-alpha-mannosidase activity and misfolded protein binding activity. Involved in positive regulation of retrograde protein transport, ER to cytosol; protein targeting to ER; and proteolysis involved in protein catabolic process. Located in aggresome and endoplasmic reticulum quality control compartment. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants39 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs768018504 | 3:5,229,521 | G/A | — | uncertain significance |
| rs377481139 | 3:5,229,524 | C/T | — | uncertain significance |
| rs1027319498 | 3:5,229,662 | G/T | — | uncertain significance |
| rs775996453 | 3:5,229,663 | G/A | — | uncertain significance |
| rs1271865128 | 3:5,229,666 | C/T | — | uncertain significance |
| rs747423181 | 3:5,229,668 | G/T | — | uncertain significance |
| rs762255204 | 3:5,229,680 | G/C | — | uncertain significance |
| rs765846281 | 3:5,229,683 | G/C | — | uncertain significance |
| rs774467884 | 3:5,229,687 | T/C | — | uncertain significance |
| rs763827559 | 3:5,229,699 | C/T | — | uncertain significance |
| rs757158212 | 3:5,229,713 | C/T | — | uncertain significance |
| rs747261681 | 3:5,229,746 | G/C | — | uncertain significance |
| rs1483227434 | 3:5,229,803 | G/A | — | uncertain significance |
| rs758507201 | 3:5,229,848 | G/T | — | uncertain significance |
| rs748528810 | 3:5,229,863 | C/A | — | uncertain significance |
| rs2054853972 | 3:5,229,986 | G/T | — | uncertain significance |
| rs200791433 | 3:5,241,374 | C/T | — | uncertain significance |
| rs2469912524 | 3:5,243,480 | C/G | — | uncertain significance |
| rs762666826 | 3:5,243,485 | A/G | — | uncertain significance |
| rs143029003 | 3:5,243,490 | C/A | — | uncertain significance |
| rs1284006625 | 3:5,243,535 | T/C | — | likely benign |
| rs747534115 | 3:5,243,559 | C/T | — | uncertain significance |
| rs147494567 | 3:5,243,571 | G/A | — | uncertain significance |
| rs954662766 | 3:5,243,588 | G/C | — | uncertain significance |
| rs767242909 | 3:5,243,607 | C/T | — | uncertain significance |
| rs879106593 | 3:5,244,685 | A/G | — | uncertain significance |
| rs770826919 | 3:5,244,703 | C/T | — | uncertain significance |
| rs2469914576 | 3:5,244,727 | A/C | — | uncertain significance |
| rs1339281017 | 3:5,246,901 | A/T | — | uncertain significance |
| rs2469925280 | 3:5,249,905 | C/A | — | uncertain significance |
| rs139759614 | 3:5,251,870 | A/G | — | uncertain significance |
| rs1228016947 | 3:5,251,920 | T/C | — | uncertain significance |
| rs140135927 | 3:5,252,833 | A/G | — | uncertain significance |
| rs2055191474 | 3:5,255,089 | A/G | — | uncertain significance |
| rs2469934610 | 3:5,255,133 | G/A | — | uncertain significance |
| rs200946341 | 3:5,255,160 | C/T | — | uncertain significance |
| rs146114575 | 3:5,255,176 | A/G | — | uncertain significance |
| rs146217902 | 3:5,257,572 | G/A | missense variant | — |
| rs7613380 | 3:5,257,975 | A/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.