Gene: MMP13

Alternate names for this Gene: CLG3|MANDP1|MDST|MMP-13

Gene 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.

Gene is located in Chromosome: 11

Location in Chromosome : 11q22.2

Description of this Gene: matrix metallopeptidase 13

Type of Gene: protein-coding

rs11824953 in MMP13 gene and High density lipoprotein measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs11828157 in MMP13 gene and Low density lipoprotein cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs140059558 in MMP13 gene and Metaphyseal chondrodysplasia Spahr type PMID 24781753 2015 Exome sequencing reveals a nonsense mutation in MMP13 as a new cause of autosomal recessive metaphyseal anadysplasia.

PMID 24648384 2014 MMP13 mutations are the cause of recessive metaphyseal dysplasia, Spahr type.

rs11824953 in MMP13 gene and Serum HDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs11828157 in MMP13 gene and Serum LDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs121909497 in MMP13 gene and Spondyloepimetaphyseal Dysplasia, Missouri Type PMID 16167086 2005 MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO).

PMID 19615667 2009 Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasia.

rs11824953 in MMP13 gene and Triglycerides measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.