MMP14 Chromosome 14

Matrix metallopeptidase 14
3 variants 3 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. However, the protein encoded by this gene is a member of the membrane-type MMP (MT-MMP) subfamily; each member of this subfamily contains a potential transmembrane domain suggesting that these proteins are expressed at the cell surface rather than secreted. This protein activates MMP2 protein, and this activity may be involved in tumor invasion. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"M10 matrix metallopeptidases|Elastases"
Locus Type
gene with protein product
Location
14q11.2
Ensembl
ENSG00000157227
Associated Conditions (2)
Inborn genetic diseases
Winchester syndrome
Key Variants
All Variants (3)
RSID Category Clinical Significance Conditions
RS201413207 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1284390443 Health Risk Pathogenic Winchester syndrome, Winchester syndrome
RS587777039 Health Risk Pathogenic Winchester syndrome, Winchester syndrome
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