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MMP19

Domain

The conserved cysteine present in the cysteine-switch motif binds the catalytic zinc ion, thus inhibiting the enzyme. The dissociation of the cysteine from the zinc ion upon the activation-peptide release activates the enzyme.

Function

Endopeptidase that degrades various components of the extracellular matrix, such as aggrecan and cartilage oligomeric matrix protein (comp), during development, haemostasis and pathological conditions (arthritic disease). May also play a role in neovascularization or angiogenesis. Hydrolyzes collagen type IV, laminin, nidogen, nascin-C isoform, fibronectin, and type I gelatin.

Involvement in disease

Cavitary optic disc anomalies

CODA

An ocular disease characterized by a profound excavation of the optic nerve. Clinical phenotype is variable and includes congenitally excavated optic nerves as well as other features of optic pit, optic nerve coloboma, and morning glory disk anomaly. Patients with CODA have a strong predilection for retinal detachment and/or separation of the retinal layers (retinoschisis) that lead to profound central vision loss.

None

The disease is caused by variants affecting the gene represented in this entry.

Post-translational modifications

Activated by autolytic cleavage after Lys-97.

Tyrosine phosphorylated by PKDCC/VLK.

Sequence Similarities

Belongs to the peptidase M10A family.

Tissue Specificity

Expressed in mammary gland, placenta, lung, pancreas, ovary, small intestine, spleen, thymus, prostate, testis colon, heart and blood vessel walls. Not detected in brain and peripheral blood leukocytes. Also expressed in the synovial fluid of normal and rheumatoid patients (PubMed:8920941).

Cellular localization

Alternative names

MMP18, RASI, MMP19, Matrix metalloproteinase-19, MMP-19, Matrix metalloproteinase RASI, Matrix metalloproteinase-18, MMP-18

swissprot:Q99542 omim:601807 entrezGene:4327