MMP10

matrix metallopeptidase 10

Summary

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 fibronectin, laminin, elastin, proteoglycan core protein, gelatins, and several types of collagen. The gene is part of a cluster of MMP genes on chromosome 11. [provided by RefSeq, Jan 2016]

Known Variants43 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1786100911:102,641,531T/Amissense variant—
rs75571388511:102,641,566C/T—uncertain significance
rs92102872111:102,641,612A/G—uncertain significance
rs1280492911:102,642,508G/Aupstream gene variant—
rs1280706311:102,642,510A/Gupstream gene variant—
rs90102496011:102,642,744A/C—uncertain significance
rs14726776911:102,643,604G/T—likely benign
rs13916833911:102,643,636C/A—likely benign
rs37267358311:102,643,657T/C—uncertain significance
rs14943643311:102,643,674G/A—uncertain significance
rs20124862311:102,645,933A/G—uncertain significance
rs14608983811:102,646,037T/C—benign
rs147190197411:102,647,054C/T—uncertain significance
rs213435023711:102,647,120G/C—uncertain significance
rs159170392511:102,647,127G/A—likely benign
rs76594085711:102,647,146G/A—uncertain significance
rs18338374411:102,647,357A/C—uncertain significance
rs36918588411:102,647,368A/T—uncertain significance
rs37762598911:102,647,466A/G—uncertain significance
rs1786096711:102,648,057T/Cintron variant—
rs20205415911:102,649,379C/T—uncertain significance
rs37187235211:102,649,399T/C—uncertain significance
rs249649304911:102,649,448C/T—uncertain significance
rs37215200111:102,649,468A/G—uncertain significance
rs185778174011:102,649,474C/T—uncertain significance
rs1786095511:102,649,482T/C—benign
rs11712911011:102,649,623T/Cupstream gene variant—
rs37414062011:102,649,959A/C—uncertain significance
rs76984477711:102,649,967A/G—uncertain significance
rs75011368411:102,650,004G/A—uncertain significance
rs14206560111:102,650,040C/T—uncertain significance
rs14466035611:102,650,042A/G—uncertain significance
rs56817374811:102,650,043T/C—uncertain significance
rs76073041011:102,650,063C/T—uncertain significance
rs76481727211:102,650,073C/T—uncertain significance
rs14763971911:102,650,268A/T—conflicting classifications of pathogenicity
rs185779541011:102,650,284T/C—uncertain significance
rs1729360711:102,650,389C/Tmissense variant—
rs48605511:102,650,424C/Tmissense variant—
rs76778224111:102,650,443C/T—uncertain significance
rs14617439011:102,650,457T/C—uncertain significance
rs74913936911:102,651,270T/C—uncertain significance
rs1743595911:102,651,313G/Cmissense variantbenign

Gene information from NCBI Gene. Variant classifications from ClinVar.