MMP16

Chr 8

matrix metallopeptidase 16

Also known as: C8orf57, MMP-X2, MT-MMP2, MT-MMP3, MT3-MMP

NCBI Gene: 4325 ENSG00000156103 UniProt: P51512 OMIM: 602262

The protein is a membrane-bound endopeptidase that degrades extracellular matrix components including collagen type III and fibronectin, and activates progelatinase A for vascular matrix remodeling. This gene is highly constrained against loss-of-function variants, but no definitive disease associations have been established in the current datasets. The inheritance pattern for potential disease-causing variants would be autosomal.

OMIM ResearchSummary from RefSeq, UniProt

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 encoded protein activates MMP2 by cleavage. This gene was once referred to as MT-MMP2, but was renamed as MT-MMP3 or MMP16. [provided by RefSeq, Oct 2010]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

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Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.35

LOEUF

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Mechanism