DISEASES

Disease-gene associations mined from literature

Literature associating ADAMTS5 and Weill-Marchesani syndrome

ADAMTS5 [ENSP00000284987]

A disintegrin and metalloproteinase with thrombospondin motifs 5; Metalloproteinase that plays an important role in connective tissue organization, development, inflammation, arthritis, and cell migration. ADAMTS5 is an extracellular matrix (ECM) degrading enzyme that show proteolytic activity toward the hyalectan group of chondroitin sulfate proteoglycans (CSPGs) including aggrecan, versican, brevican and neurocan . Cleavage within the hyalectans occurs at Glu-Xaa recognition motifs. Plays a role in embryonic development, including limb and cardiac morphogenesis, and skeletal muscle development through its versican remodeling properties. Participates in development of brown adipose tissue and browning of white adipose tissue. Plays an important role for T-lymphocyte migration from draining lymph nodes following viral infection.

Synonyms:  ADAMTS5,  ADAMTS5p,  hADAMTS5,  A0A494C1E4,  Q9UNA0 ...

Linkouts:  STRING  Pharos  UniProt  OMIM