MMP9 Chromosome 20

Matrix metallopeptidase 9
17 variants 17 Health Risk

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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
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
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