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FLASH GENE
Symbol MMP14 contributors: mct - updated : 22-10-2016
HGNC name matrix metalloproteinase 14 (membrane-inserted)
HGNC id 7160
ASSOCIATED DISORDERS
corresponding disease(s) WINCH2
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral     --over  
in oral squamous cell carcinoma (OSCC) with lymph node metastasis
constitutional     --over  
in keratoconus cornea
tumoral       gain of function
in head and neck cancer (by CSF2)and in melanoma in progression
tumoral     --over  
in glioma-associated microglia
constitutional     --over  
reduced corneal opacity and expression of the major genes involved in corneal scarring, especially type III collagen and alpha-smooth muscle actin
tumoral     --over  
in human gastric cancer and its association with tumor progression
Susceptibility to chronic obstructive pulmonary
Variant & Polymorphism other haplotype -165 T : +221 T : +6727 C : +7096 C, might be involved in the pathogenesis of chronic obstructive pulmonary disease
Candidate gene
  • tyrosine-phosphorylated MMP14 plays an important role in neuroblastoma progression and its expression is preferentially observed in tumor specimens from neuroblastoma patients showing poor clinical outcome
  • Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerbrain 
    targeted inhibition of MMP14 or SLC37A4 may lead to reduced infiltrative and invasive properties of brain tumor cells
    ANIMAL & CELL MODELS
  • Mt1-Mmp-/- mice had a lower number of empty lacunae and a higher osteocyte density