Gene Symbol | MMP1 |
Entrez Gene ID | 4312 |
Full Name | matrix metallopeptidase 1 |
Synonyms | CLG,CLGN |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | COPD, rate of decline of lung function in, 606963 (3); {Epidermolysis bullosa dystrophica, autosomal recessive, modifier of}, 226600 (3) |