Disease-gene associations mined from literature

Literature associating MMP13 and spondyloepimetaphyseal dysplasia

MMP13 [ENSP00000260302]

Matrix metallopeptidase 13 (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 CTGF. 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 CTGF. Plays a role in keratinocyte migration during wound healing. May play a role in cell migration and in tumor cell invasion; Belongs to the peptidase M10A family.

Synonyms:  MMP13,  MMP13p,  hMMP13,  G5E971,  P45452 ...

Linkouts:  STRING  Pharos  UniProt  OMIM