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FLASH GENE
Symbol MMP1 contributors: mct/ - updated : 13-06-2015
HGNC name matrix metalloproteinase 1 (interstitial collagenase)
HGNC id 7155
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral     --over  
in breast cancer and in sporadic colorectal cancer and in squamous cell carcinoma by UV-irradiation
constitutional     --over  
in inflammatory bowel disease
tumoral     --low  
in diffuse type gastric carcinoma, and in hereditary non-polyposis colorectal carcinoma
tumoral   LOH    
in melanomas (invasive and agressive forms)
Susceptibility
  • to preterm premature rupture of the membrane (PPROM)
  • to higher disease severity in EBDR (epidermolysis bullosa dystrophica)
  • to idiopathic pulmonary fibrosis (IPF)
  • to cutaneous melanoma
  • Variant & Polymorphism SNP , other
  • allele 2G contributing to the risk of PPROM
  • T > C single nucleotide polymorphism found to be protective against PPROM (reduced promoter function)
  • SNP (1G/2G) in the promoter creating a functional ETS binding site resulting in transcriptional upregulation, and increasing teh severity in EBDR
  • polymorphisms of the MMP1 promoter may confer increased risk for IPF
  • associations of seven single nucleotide polymorphisms (SNPs) in the promoter region of MMP1 gene with susceptibility to cutaneous melanoma
  • Candidate gene for identification of breast lesions that can develop into cancer
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancermetastases 
    molecular targeting of MMP1 and ADAMTS1, combined with inhibition of EGFR, may potentially reduce the risk of bone metastasis for a significant number of breast cancer patients
    immunologyinfectious 
    therapeutics that target MMP1-F2R may prove beneficial in the treatment of sepsis
    ANIMAL & CELL MODELS
  • decreased susceptibility to develop lung carcinomas induced by chemical carcinogens in Mmp1a(-/-) mice