DISEASES

Disease-gene associations mined from literature

Literature associating MMP20 and amelogenesis imperfecta type 1C

MMP20 [ENSP00000260228]

Matrix metalloproteinase-20; Degrades amelogenin, the major protein component of the enamel matrix and two of the macromolecules characterizing the cartilage extracellular matrix: aggrecan and the cartilage oligomeric matrix protein (COMP). May play a central role in tooth enamel formation. Cleaves aggrecan at the '360-Asn-|-Phe-361' site.

Synonyms:  MMP20,  MMP20p,  hMMP20,  O60882,  O60882p ...

Linkouts:  STRING  Pharos  UniProt  OMIM