MMP9 mutated Q279R
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
The protein expressed by gene MMP9 is a matrix metalloproteinase that plays an essential role in the local proteolysis of the extracellular matrix and in leukocyte migration. It cleaves KiSS1 at a Gly-|-Leu bond and processes NINJ1 to generate the Secreted ninjurin-1 form. Additionally, MMP9 cleaves type IV and type V collagen into large C-terminal three-quarter fragments and shorter N-terminal one-quarter fragments. It degrades fibronectin but not laminin or Pz-peptide. This supplementary information is collated from multiple sources and compiled automatically.
Involvement in disease
Intervertebral disc disease
IDD
A common musculo-skeletal disorder caused by degeneration of intervertebral disks of the lumbar spine. It results in low-back pain and unilateral leg pain.
None
Disease susceptibility is associated with variants affecting the gene represented in this entry.
Metaphyseal anadysplasia 2
MANDP2
A bone development disorder characterized by skeletal anomalies that resolve spontaneously with age. Clinical characteristics are evident from the first months of life and include slight shortness of stature and a mild varus deformity of the legs. Patients attain a normal stature in adolescence and show improvement or complete resolution of varus deformity of the legs and rhizomelic micromelia.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Processing of the precursor yields different active forms of 64, 67 and 82 kDa. Sequentially processing by MMP3 yields the 82 kDa matrix metalloproteinase-9.
N- and O-glycosylated.
Sequence Similarities
Belongs to the peptidase M10A family.
Tissue Specificity
Detected in neutrophils (at protein level) (PubMed:7683678). Produced by normal alveolar macrophages and granulocytes.
Cellular localization
- Secreted
- Extracellular space
- Extracellular matrix
Alternative names
CLG4B, MMP9, Matrix metalloproteinase-9, MMP-9, 92 kDa gelatinase, 92 kDa type IV collagenase, Gelatinase B, GELB
Database links
Other research areas
- Cardiovascular
- Immunology & Infectious Disease
- Neuroscience