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MMP13

Chr 11q22.2

matrix metallopeptidase 13

Aliases:
CLG3
MANE:
ENST00000260302.8

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal
  • Fetal anomalies

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal
  • Skeletal dysplasia

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal
  • Intellectual disability

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal
  • Osteogenesis imperfecta

Disease associations (Open Targets)

  • spondyloepimetaphyseal dysplasia, Missouri type

    0.79
  • metaphyseal anadysplasia

    0.73
  • metaphyseal chondrodysplasia, Spahr type

    0.69
  • acne

    0.60
  • rosacea

    0.58
  • periodontitis

    0.57
  • infection

    0.55
  • spotted fever

    0.49
  • typhus

    0.48
  • pneumonia

    0.47

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Collagenase 3

Plays a role in the degradation of extracellular matrix proteins including fibrillar collagen, fibronectin, TNC and ACAN. Cleaves triple helical collagens, including type I, type II and type III collagen, but has the highest activity with soluble type II collagen. Can also degrade collagen type IV, type XIV and type X. May also function by activating or degrading key regulatory proteins, such as TGFB1 and CCN2. Plays a role in wound healing, tissue remodeling, cartilage degradation, bone development, bone mineralization and ossification. Required for normal embryonic bone development and ossification. Plays a role in the healing of bone fractures via endochondral ossification. Plays a role in wound healing, probably by a mechanism that involves proteolytic activation of TGFB1 and degradation of CCN2. Plays a role in keratinocyte migration during wound healing. May play a role in cell migration and in tumor cell invasion

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.