DISEASES

Disease-gene associations mined from literature

Literature associating MMP12 and hyperphosphatemic familial tumoral calcinosis

MMP12 [ENSP00000458585]

Matrix metallopeptidase 12 (macrophage elastase); May be involved in tissue injury and remodeling. Has significant elastolytic activity. Can accept large and small amino acids at the P1' site, but has a preference for leucine. Aromatic or hydrophobic residues are preferred at the P1 site, with small hydrophobic residues (preferably alanine) occupying P3; Belongs to the peptidase M10A family.

Synonyms:  MMP12,  MMP12p,  hMMP12,  P39900,  HME ...

Linkouts:  STRING  Pharos  UniProt