| Symbol
| MMP1
| contributors: mct/ - updated : 13-06-2015
|
| HGNC name
| matrix metalloproteinase 1 (interstitial collagenase)
|
| HGNC id
| 7155
|
| Other morbid association(s)
|
| Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein 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
|
|
| System | Type | Disorder | Pubmed |
|---|
| cancer | metastases | | |
| 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 | | immunology | infectious | | |
| therapeutics that target MMP1-F2R may prove beneficial in the treatment of sepsis |
| | |
|
| decreased susceptibility to develop lung carcinomas induced by chemical carcinogens in Mmp1a(-/-) mice |