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FLASH GENE

Symbol

MMP9

contributors: mct/pgu - updated : 24-04-2019

HGNC name	matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)
HGNC id	7176

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

MAND1

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in cutaneous squamous cell carcinoma with metastatic potential and in in sporadic colorectal cancer tumoral     --low   in diffuse type gastric carcinoma, and in hereditary non-polyposis colorectal carcinoma tumoral     --over   in breast cancer and in prostate cancer with aggressive phenotype constitutional       gain of function in chronic obstructive pulmonary disease constitutional     --over   at the site of abdominal aortic aneurysm rupture constitutional     --over   in arthritis, degrading non-collagen matrix components of the joints constitutional     --over   higher in MADYS1 (mandibuloacral dysplasia type A) sera compared with healthy controls constitutional     --over   in skeletal muscle tissues after nerve injury, heart failure and inflammatory myopathy, and exacerbate dystrophinopathy by augmenting fiber necrosis, ECM degradation, inflammation and fibrosis tumoral     --over   is associated with accumulation of the pleural effusion in malignancy constitutional     --over   hypertension-induced atherosclerosis was associated with significantly increased levels of MMP9 mRNA, which may enhance both the deposition of types I and III collagen and atherosclerotic plaque formation constitutional     --over   may be linked with the intractable epilepsy caused by focal cortical dysplasia type IIb (FCDIIb) and tuberous sclerosis complex (TSC) constitutional       gain of function SPARC, MMP2 and MM9 were significantly up-regulated in intracranial aneurysms relative to the expression levels in the normal Circle of Willis arteries constitutional     --low   AHSG, MMP9, and MMP3 levels were significantly lower in migraine than controls tumoral     --over   in the invasive group of pituitary adenomas (pMID: 21279695)

Susceptibility

to dementia to toxic epidermal necrolysis and to Stevens-Johnson syndrome to lumbar-disc herniation to exudative form of age-related macular degeneration (AMD) to cleft lip/palate to inflammatory bowel diseases to polymyositis to malignant gliomas to coronary atherosclerosis, and to carotid arteries atherosclerosis to macroangiopathic complications in type 2 diabetes mellitus (T2DM) to multiple sclerosis (MS)

Variant & Polymorphism repeat , other	polymorphism 1562c>t having protective effect against dementia
	longer microsatellites in the promoter of MMP9 are associated to the exudative form of AMD
	(> or =22 CA) in the microsatellite of the promoter, is associated to carotid atherosclerosis
	frequency of the allele T was higher in patients with macroangiopathic complications in type 2 diabetes mellitus (T2DM)
	MMP9 C(-1562)T and (CA)(n) polymorphisms contribute to multiple sclerosis (MS)

Candidate gene
Marker	measurement of serum MMP9 might be clinically useful for pancreatic ductal adenocarcinoma diagnosis
	potential DMD biomarker for disease progression
	urinary MMP9/LCN2 and ADAM12 are potential noninvasive biomarkers for gastric cancer, including early-stage disease
	dysregulated levels of MMP9 may be involved in sepsis pathophysiology and may be utilized as potential diagnostic biomarkers
	TIMP2 and MMP9 expression had a synergistic role as efficient prognostic indicators for CRC patients
	may serve as an additional prognostic biomarker in head and neck squamous cell carcinoma
Therapy target
	System Type Disorder Pubmed immunology autoimmune   target for therapy of autoimmune diseases neuromuscular myopathy degenerative PGF–MMP9–expressing cells restore microcirculation and efficacy of cell therapy in aged dystrophic muscle cancer brain glioma/neuroblstoma inhibition by irisolidone might be a potential therapeutic modality for controlling the growth and invasiveness of gliomas neuromuscular myopathy degenerative one of the most promising therapeutic targets for the prevention of disease progression in DMD neurosensorial visual anterior chamber potential therapeutic targets (MMP-9) against proliferative vitreoretinopathy (PVR) diabete type 2   increasing islet MMP9 activity might be a strategy to limit beta-cell loss in type 2 diabetes cancer head and neck   target to support current head and neck squamous cell carcinoma treatments

ANIMAL & CELL MODELS

	key regulator of grow plate angiogenesis and apoptosis of hypertrophic chondrocytes in mice
	Deletion of Mmp9 gene in mdx mice improved skeletal muscle structure and functions and reduced muscle injury, inflammation and fiber necrosis
	Mmp9 deficiency causes physiological and placental abnormalities in mice, which mimic features of preeclampsia (PE)