MMP1 Chromosome 11

Matrix metallopeptidase 1
1 variant 1 Health Risk

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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 secreted protease breaks down the interstitial collagens, including types I, II, and III. The gene is part of a cluster of MMP genes on chromosome 11. Mutations in this gene are associated with chronic obstructive pulmonary disease (COPD). Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]
Gene Info
Gene Group
"Receptor ligands|M10 matrix metallopeptidases"
Locus Type
gene with protein product
Location
11q22.2
Ensembl
ENSG00000196611
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS17884120 Health Risk Conflicting classifications of pathogenicity
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