MLEC
malectin
Summary
This gene encodes the carbohydrate-binding protein malectin which is a Type I membrane-anchored endoplasmic reticulum protein. This protein has an affinity for Glc2Man9GlcNAc2 (G2M9) N-glycans and is involved in regulating glycosylation in the endoplasmic reticulum. This protein has also been shown to interact with ribophorin I and may be involved in the directing the degradation of misfolded proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
Known Variants11 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs151126608 | 12:121,124,901 | C/T | regulatory region variant | — |
| rs765689660 | 12:121,125,211 | G/A | — | uncertain significance |
| rs10431385 | 12:121,128,882 | T/C | intron variant | — |
| rs10431386 | 12:121,128,926 | C/T | intron variant | benign |
| rs7964786 | 12:121,132,100 | C/T | regulatory region variant | benign |
| rs1309082544 | 12:121,132,654 | G/A | — | uncertain significance |
| rs199627699 | 12:121,134,180 | A/C | — | uncertain significance |
| rs372407878 | 12:121,134,244 | C/T | — | uncertain significance |
| rs2501067597 | 12:121,134,274 | A/G | — | uncertain significance |
| rs1803509 | 12:121,139,385 | T/C | upstream gene variant | — |
| rs35525135 | 12:121,140,064 | T/C | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.