MESD Chromosome 15
Mesoderm development LRP chaperone
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What This Gene Does
Predicted to enable low-density lipoprotein particle receptor binding activity and protein folding chaperone. Involved in ossification and protein folding. Located in endoplasmic reticulum. Implicated in osteogenesis imperfecta type 20. [provided by Alliance of Genome Resources, Apr 2025]
Associated Conditions (2)
Osteogenesis imperfecta
type 20
Key Variants
RS745891632
Likely pathogenic
Osteogenesis imperfecta, type 20, Osteogenesis imperfecta
Health Risk
RS1021282486
Pathogenic
Osteogenesis imperfecta, type 20, Osteogenesis imperfecta
Health Risk
RS1358762917
Pathogenic
Health Risk
RS1406026055
Pathogenic
Health Risk
RS759048290
Pathogenic
Osteogenesis imperfecta, type 20, Osteogenesis imperfecta
Health Risk
RS780491808
Pathogenic
Osteogenesis imperfecta, type 20, Osteogenesis imperfecta
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS745891632 | Health Risk | Likely pathogenic | Osteogenesis imperfecta, type 20, Osteogenesis imperfecta |
| RS1021282486 | Health Risk | Pathogenic | Osteogenesis imperfecta, type 20, Osteogenesis imperfecta |
| RS1358762917 | Health Risk | Pathogenic | — |
| RS1406026055 | Health Risk | Pathogenic | — |
| RS759048290 | Health Risk | Pathogenic | Osteogenesis imperfecta, type 20, Osteogenesis imperfecta |
| RS780491808 | Health Risk | Pathogenic | Osteogenesis imperfecta, type 20, Osteogenesis imperfecta |