MMP9 Chromosome 20
Matrix metallopeptidase 9
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What This Gene Does
Proteins of the matrix metalloproteinase (MMP) 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. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. The enzyme encoded by this gene degrades type IV and V collagens. Studies in rhesus monkeys suggest that the enzyme is involved in IL-8-induced mobilization of hematopoietic progenitor cells from bone marrow, and murine studies suggest a role in tumor-associated tissue remodeling. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"M10 matrix metallopeptidases|Elastases"
Locus Type
gene with protein product
Location
20q13.12
Ensembl
ENSG00000100985
Associated Conditions (3)
Metaphyseal anadysplasia 2
Gastric cancer
Ovarian serous cystadenocarcinoma
Key Variants
RS141884644
Conflicting classifications of pathogenicity
Health Risk
RS144098289
Conflicting classifications of pathogenicity
Metaphyseal anadysplasia 2, Gastric cancer, Ovarian serous cystadenocarcinoma
Health Risk
RS144229833
Conflicting classifications of pathogenicity
Metaphyseal anadysplasia 2, Metaphyseal anadysplasia 2
Health Risk
RS146499495
Conflicting classifications of pathogenicity
Metaphyseal anadysplasia 2, Metaphyseal anadysplasia 2
Health Risk
RS200040822
Conflicting classifications of pathogenicity
Metaphyseal anadysplasia 2, Metaphyseal anadysplasia 2
Health Risk
RS200146604
Conflicting classifications of pathogenicity
Gastric cancer, Gastric cancer
Health Risk
RS200292673
Conflicting classifications of pathogenicity
Metaphyseal anadysplasia 2, Metaphyseal anadysplasia 2
Health Risk
RS200618210
Conflicting classifications of pathogenicity
Metaphyseal anadysplasia 2, Metaphyseal anadysplasia 2
Health Risk
RS201280938
Conflicting classifications of pathogenicity
Metaphyseal anadysplasia 2, Metaphyseal anadysplasia 2
Health Risk
RS202160464
Conflicting classifications of pathogenicity
Health Risk
RS41529445
Conflicting classifications of pathogenicity
Metaphyseal anadysplasia 2, Metaphyseal anadysplasia 2
Health Risk
RS45592943
Conflicting classifications of pathogenicity
Metaphyseal anadysplasia 2, Metaphyseal anadysplasia 2
Health Risk
All Variants (17)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS141884644 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS144098289 | Health Risk | Conflicting classifications of pathogenicity | Metaphyseal anadysplasia 2, Gastric cancer, Ovarian serous cystadenocarcinoma |
| RS144229833 | Health Risk | Conflicting classifications of pathogenicity | Metaphyseal anadysplasia 2, Metaphyseal anadysplasia 2 |
| RS146499495 | Health Risk | Conflicting classifications of pathogenicity | Metaphyseal anadysplasia 2, Metaphyseal anadysplasia 2 |
| RS200040822 | Health Risk | Conflicting classifications of pathogenicity | Metaphyseal anadysplasia 2, Metaphyseal anadysplasia 2 |
| RS200146604 | Health Risk | Conflicting classifications of pathogenicity | Gastric cancer, Gastric cancer |
| RS200292673 | Health Risk | Conflicting classifications of pathogenicity | Metaphyseal anadysplasia 2, Metaphyseal anadysplasia 2 |
| RS200618210 | Health Risk | Conflicting classifications of pathogenicity | Metaphyseal anadysplasia 2, Metaphyseal anadysplasia 2 |
| RS201280938 | Health Risk | Conflicting classifications of pathogenicity | Metaphyseal anadysplasia 2, Metaphyseal anadysplasia 2 |
| RS202160464 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS41529445 | Health Risk | Conflicting classifications of pathogenicity | Metaphyseal anadysplasia 2, Metaphyseal anadysplasia 2 |
| RS45592943 | Health Risk | Conflicting classifications of pathogenicity | Metaphyseal anadysplasia 2, Metaphyseal anadysplasia 2 |
| RS559776843 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS763688228 | Health Risk | Conflicting classifications of pathogenicity | Metaphyseal anadysplasia 2, Metaphyseal anadysplasia 2 |
| RS139620474 | Health Risk | Likely pathogenic | Metaphyseal anadysplasia 2, Metaphyseal anadysplasia 2 |
| RS2515612990 | Health Risk | Likely pathogenic | Metaphyseal anadysplasia 2, Metaphyseal anadysplasia 2 |
| RS1302101551 | Health Risk | Pathogenic | Metaphyseal anadysplasia 2, Metaphyseal anadysplasia 2 |