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gene: MMP13

id4322
symbolMMP13
organismHomo sapiens
full namematrix metallopeptidase 13
summaryThis 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]
variant-disease

NM_002427.4(MMP13):c.221T>C (p.Phe74Ser) AND Metaphyseal anadysplasia 1, autosomal dominant

NM_002427.4(MMP13):c.*436G>C AND Spondyloepimetaphyseal dysplasia

NM_002427.4(MMP13):c.*628A>G AND Spondyloepimetaphyseal dysplasia

NM_002427.4(MMP13):c.619T>G (p.Trp207Gly) AND not provided

NM_002427.4(MMP13):c.1080T>C (p.Tyr360=) AND Spondyloepimetaphyseal dysplasia

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