DISEASES

Disease-gene associations mined from literature

Literature associating ADAMTS2 and autosomal dominant Robinow syndrome 2

ADAMTS2 [ENSP00000251582]

A disintegrin and metalloproteinase with thrombospondin motifs 2; Cleaves the propeptides of type I and II collagen prior to fibril assembly (By similarity). Does not act on type III collagen (By similarity). Cleaves lysyl oxidase LOX at a site downstream of its propeptide cleavage site to produce a short LOX form with reduced collagen-binding activity .

Synonyms:  ADAMTS2,  ADAMTS2p,  hADAMTS2,  A0A1B0GTY3,  O95450 ...

Linkouts:  STRING  Pharos  UniProt  OMIM