Gene Symbol | MMP13 |
Entrez Gene ID | 4322 |
Full Name | matrix metallopeptidase 13 |
Synonyms | CLG3,MANDP1,MDST,MMP-13 |
General protein information |
|
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 protease cleaves type II collagen more efficiently than types I and III. It may be involved in articular cartilage turnover and cartilage pathophysiology associated with osteoarthritis. Mutations in this gene are associated with metaphyseal anadysplasia. This gene is part of a cluster of MMP genes on chromosome 11. [provided by RefSeq, Jan 2016]. |
Disorder MIM: | |
Disorder Html: | Spondyloepimetaphyseal dysplasia, Missouri type, 602111 (3); Metaphyseal anadysplasia 1, 602111 (3); Metaphyseal dysplasia, Spahr type, 250400 (3) |