MMP15

Chr 16

matrix metallopeptidase 15

Also known as: MMP-15, MT2-MMP, MT2MMP, MTMMP2, SMCP-2

NCBI Gene: 4324 ENSG00000102996 UniProt: P51511 OMIM: 602261

The protein is a membrane-bound matrix metalloproteinase that degrades extracellular matrix components and may activate progelatinase A. This gene is highly constrained against loss-of-function variants (LOEUF 0.48), but no established Mendelian disorders have been linked to MMP15 mutations in current clinical databases.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a member of the peptidase M10 family and membrane-type subfamily 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. Members of this subfamily contain a transmembrane domain suggesting that these proteins are expressed at the cell surface rather than secreted. The encoded preproprotein is proteolytically processed to generate the mature protease. This protein may play a role in cancer progression. [provided by RefSeq, Jan 2016]

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.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.48

LOEUF

Multiple*

Mechanism· predicted