Gene Symbol

MMP1

Aliases

CLG, CLGN

Entrez Gene ID

4312

Gene Name

Matrix metallopeptidase 1

Chromosomal Location

11q22.2

HGNC ID

HGNC:7155

Summary

This gene encodes a member of the peptidase M10 family of matrix metalloproteinases (MMPs). Proteins in this family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. The encoded preproprotein is proteolytically processed to generate the mature protease. This secreted protease breaks down the interstitial collagens, including types I, II, and III. The gene is part of a cluster of MMP genes on chromosome 11. Mutations in this gene are associated with chronic obstructive pulmonary disease (COPD). Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]

Function

P03956

PDB

1AYK, 1CGE, 1CGF, 1CGL, 1HFC, 1SU3, 2AYK, 2CLT, 2J0T, 2TCL, 3AYK, 3SHI, 4AUO, 4AYK, 966C

STRING	MINT	IntAct
ENSP00000268053	P05108	P05108

PMID: 15866608

A polymorphism in the matrix metalloproteinase-1 gene promoter is associated with the presence of polycystic ovary syndrome in Caucasian women. Walch Katharina, Nagele Friedrich, Zeillinger Robert, Vytiska-Binstorfer Elisabeth, Huber Johannes C, Hefler Lukas A Department of Obstetrics and Gynecology, Medical University Vienna, Vienna, Austria. katharina.walch@meduniwien.ac.at Fertil Steril. 2005 May;83(5):1565-7. doi: 10.1016/j.fertnstert.2004.11.043. Abstract A common -1607 GG/G polymorphism of the matrix metalloproteinase-1 (MMP1) gene promoter was investigated in a series of Caucasian women with polycystic ovary syndrome (PCOS) and controls, by direct sequencing. In this prospective case-control study, the odds for women with at least one mutant GG allele of the MMP1 promoter to be diagnosed with PCOS was 2.7.