MMP13 Chromosome 11
Matrix metallopeptidase 13
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What This Gene Does
This gene encodes a member of the peptidase M10 family of matrix metalloproteinases (MMPs). Proteins in this family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. The encoded preproprotein is proteolytically processed to generate the mature protease. This protease cleaves type II collagen more efficiently than types I and III. It may be involved in articular cartilage turnover and cartilage pathophysiology associated with osteoarthritis. Mutations in this gene are associated with metaphyseal anadysplasia. This gene is part of a cluster of MMP genes on chromosome 11. [provided by RefSeq, Jan 2016]
Gene Info
Gene Group
"Receptor ligands|M10 matrix metallopeptidases"
Locus Type
gene with protein product
Location
11q22.2
Ensembl
ENSG00000137745
Associated Conditions (10)
Spondyloepimetaphyseal dysplasia
Missouri type
Metaphyseal anadysplasia
Metaphyseal chondrodysplasia
Spahr type
Intellectual disability
Lung cancer
Metaphyseal anadysplasia 1
autosomal dominant
MMP13-related disorder
Key Variants
RS140993310
Conflicting classifications of pathogenicity
Spondyloepimetaphyseal dysplasia, Missouri type, Metaphyseal anadysplasia
Health Risk
RS142064825
Conflicting classifications of pathogenicity
Spondyloepimetaphyseal dysplasia, Missouri type, Metaphyseal anadysplasia
Health Risk
RS142601143
Conflicting classifications of pathogenicity
Metaphyseal anadysplasia, Spondyloepimetaphyseal dysplasia, Missouri type
Health Risk
RS143331971
Conflicting classifications of pathogenicity
Health Risk
RS145243532
Conflicting classifications of pathogenicity
Metaphyseal anadysplasia, Spondyloepimetaphyseal dysplasia, Missouri type
Health Risk
RS150203792
Conflicting classifications of pathogenicity
Health Risk
RS17860530
Conflicting classifications of pathogenicity
Spondyloepimetaphyseal dysplasia, Missouri type, Metaphyseal anadysplasia
Health Risk
RS17860583
Conflicting classifications of pathogenicity
Metaphyseal anadysplasia, Spondyloepimetaphyseal dysplasia, Missouri type
Health Risk
RS185832993
Conflicting classifications of pathogenicity
Metaphyseal anadysplasia, Spondyloepimetaphyseal dysplasia, Missouri type
Health Risk
RS188511209
Conflicting classifications of pathogenicity
Metaphyseal anadysplasia, Spondyloepimetaphyseal dysplasia, Missouri type
Health Risk
RS367612153
Conflicting classifications of pathogenicity
Spondyloepimetaphyseal dysplasia, Missouri type, Metaphyseal anadysplasia
Health Risk
RS372000933
Conflicting classifications of pathogenicity
Spondyloepimetaphyseal dysplasia, Missouri type, Metaphyseal anadysplasia
Health Risk
All Variants (46)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140993310 | Health Risk | Conflicting classifications of pathogenicity | Spondyloepimetaphyseal dysplasia, Missouri type, Metaphyseal anadysplasia |
| RS142064825 | Health Risk | Conflicting classifications of pathogenicity | Spondyloepimetaphyseal dysplasia, Missouri type, Metaphyseal anadysplasia |
| RS142601143 | Health Risk | Conflicting classifications of pathogenicity | Metaphyseal anadysplasia, Spondyloepimetaphyseal dysplasia, Missouri type |
| RS143331971 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS145243532 | Health Risk | Conflicting classifications of pathogenicity | Metaphyseal anadysplasia, Spondyloepimetaphyseal dysplasia, Missouri type |
| RS150203792 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS17860530 | Health Risk | Conflicting classifications of pathogenicity | Spondyloepimetaphyseal dysplasia, Missouri type, Metaphyseal anadysplasia |
| RS17860583 | Health Risk | Conflicting classifications of pathogenicity | Metaphyseal anadysplasia, Spondyloepimetaphyseal dysplasia, Missouri type |
| RS185832993 | Health Risk | Conflicting classifications of pathogenicity | Metaphyseal anadysplasia, Spondyloepimetaphyseal dysplasia, Missouri type |
| RS188511209 | Health Risk | Conflicting classifications of pathogenicity | Metaphyseal anadysplasia, Spondyloepimetaphyseal dysplasia, Missouri type |
| RS367612153 | Health Risk | Conflicting classifications of pathogenicity | Spondyloepimetaphyseal dysplasia, Missouri type, Metaphyseal anadysplasia |
| RS372000933 | Health Risk | Conflicting classifications of pathogenicity | Spondyloepimetaphyseal dysplasia, Missouri type, Metaphyseal anadysplasia |
| RS372513971 | Health Risk | Conflicting classifications of pathogenicity | Spondyloepimetaphyseal dysplasia, Missouri type, Metaphyseal anadysplasia |
| RS373735518 | Health Risk | Conflicting classifications of pathogenicity | Metaphyseal anadysplasia, Spondyloepimetaphyseal dysplasia, Missouri type |
| RS374419716 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS544003228 | Health Risk | Conflicting classifications of pathogenicity | Spondyloepimetaphyseal dysplasia, Missouri type, Metaphyseal anadysplasia |
| RS61733406 | Health Risk | Conflicting classifications of pathogenicity | Spondyloepimetaphyseal dysplasia, Missouri type, Metaphyseal anadysplasia |
| RS781936267 | Health Risk | Conflicting classifications of pathogenicity | Metaphyseal anadysplasia, Spondyloepimetaphyseal dysplasia, Missouri type |
| RS781949882 | Health Risk | Conflicting classifications of pathogenicity | Spondyloepimetaphyseal dysplasia, Missouri type, Metaphyseal anadysplasia |
| RS781966264 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, Metaphyseal chondrodysplasia, Spahr type |
| RS886042854 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1057518391 | Health Risk | Likely pathogenic | — |
| RS1301955422 | Health Risk | Likely pathogenic | Spondyloepimetaphyseal dysplasia, Missouri type, Spondyloepimetaphyseal dysplasia |
| RS1591156543 | Health Risk | Likely pathogenic | — |
| RS202204922 | Health Risk | Likely pathogenic | — |
| RS2134523525 | Health Risk | Likely pathogenic | — |
| RS2496467270 | Health Risk | Likely pathogenic | — |
| RS2496470105 | Health Risk | Likely pathogenic | Spondyloepimetaphyseal dysplasia, Missouri type, Spondyloepimetaphyseal dysplasia |
| RS368922836 | Health Risk | Likely pathogenic | Lung cancer, Lung cancer |
| RS782613055 | Health Risk | Likely pathogenic | — |
| RS121909497 | Health Risk | Pathogenic | Spondyloepimetaphyseal dysplasia, Missouri type, Spondyloepimetaphyseal dysplasia |
| RS121909498 | Health Risk | Pathogenic | Metaphyseal anadysplasia 1, autosomal dominant, Metaphyseal anadysplasia 1 |
| RS121909499 | Health Risk | Pathogenic | Metaphyseal anadysplasia 1, autosomal dominant, Spondyloepimetaphyseal dysplasia |
| RS121909500 | Health Risk | Pathogenic | Metaphyseal chondrodysplasia, Spahr type, Metaphyseal chondrodysplasia |
| RS1476152257 | Health Risk | Pathogenic | — |
| RS1555016836 | Health Risk | Pathogenic | — |
| RS1565256477 | Health Risk | Pathogenic | Spondyloepimetaphyseal dysplasia, Missouri type, Spondyloepimetaphyseal dysplasia |
| RS200537937 | Health Risk | Pathogenic | Spondyloepimetaphyseal dysplasia, Missouri type, Metaphyseal anadysplasia |
| RS2134516943 | Health Risk | Pathogenic | — |
| RS2134523032 | Health Risk | Pathogenic | — |
| RS61737008 | Health Risk | Pathogenic | — |
| RS764647902 | Health Risk | Pathogenic | — |
| RS140059558 | Health Risk | Pathogenic/Likely pathogenic | Metaphyseal chondrodysplasia, Spahr type, Metaphyseal anadysplasia 1 |
| RS369083541 | Health Risk | Pathogenic/Likely pathogenic | Metaphyseal chondrodysplasia, Spahr type, Spondyloepimetaphyseal dysplasia |
| RS748468302 | Health Risk | Pathogenic/Likely pathogenic | Metaphyseal anadysplasia 1, autosomal dominant, Metaphyseal anadysplasia 1 |
| RS797044754 | Health Risk | Pathogenic/Likely pathogenic | MMP13-related disorder, MMP13-related disorder |