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FLASH GENE
Symbol MMP13 contributors: mct/npt/pgu - updated : 27-03-2016
HGNC name matrix metalloproteinase 13 (collagenase 3)
HGNC id 7159
ASSOCIATED DISORDERS
corresponding disease(s) SEMD2 , MAND2
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral     --over  
in breast carcinoma, squamous cell carcinomas of head and neck and vulvar squamous cell carcinoma
constitutional     --over  
overexpressed in rheumatoid arthritis and inabdominal aortic aneurysm
tumoral     --over  
in renal cell carcinoma bone metastasis and is induced by TGF-beta1
Susceptibility
  • to coronary artery disease
  • Variant & Polymorphism other
  • MMP13 intron polymorphism rs640198 is associated with the severity of coronary artery disease
  • Candidate gene for SEMD2
    Marker
  • could be a potential prognostic marker for colorectal cancer patients
  • Therapy target
    ANIMAL & CELL MODELS