MMP25

Chr 16

matrix metallopeptidase 25

Also known as: MMP-25, MMP20, MMP20A, MMPL1, MT-MMP 6, MT-MMP6, MT6-MMP, MT6MMP

NCBI Gene: 64386 ENSG00000008516 UniProt: Q9H239 OMIM: 608482

MMP25 encodes a membrane-type matrix metalloproteinase that degrades extracellular matrix components and inactivates alpha-1 proteinase inhibitor during inflammatory responses, facilitating neutrophil migration to inflammatory sites. The gene shows very low constraint against loss-of-function variants (pLI near zero), and no established Mendelian disease associations have been reported to date. Current evidence suggests this gene may not be critical for normal human development or associated with pediatric neurological disorders.

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 MMPs 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, attached to the plasma membrane via a glycosylphosphatidyl inositol anchor. In response to bacterial infection or inflammation, the encoded protein is thought to inactivate alpha-1 proteinase inhibitor, a major tissue protectant against proteolytic enzymes released by activated neutrophils, facilitating the transendothelial migration of neutrophils to inflammatory sites. The encoded protein may also play a role in tumor invasion and metastasis through activation of MMP2. The gene has previously been referred to as MMP20 but has been renamed MMP25. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.25

LOEUF

Multiple*

Mechanism· predicted