ADAMTS18 gene encodes a protein belonging to the ADAMTS (A Disintegrin and Metalloproteinase with Thrombospondin Motifs) protein family. This family consists of a group of secreted proteases that control several cell functions. In all, there are 19 secreted metalloproteinases within this family that share several distinct protein modules, including a propeptide region, a disintegrin-like domain, a metalloproteinase domain, and a thrombospondin type 1 (TS) motif, while they differ in the number of C-terminal TS motifs, and some of the proteins have unique C-terminal domains.
There is evidence pointing towards ADAMTS18 metalloproteinase having multiple functions. However, the exact function of this protein in various pathophysiological processes is not clear. It has been shown to be a bone mass candidate and is known to be associated with some inherited retinal dystrophies, MMCAT syndrome, and white matter integrity degeneration. In addition, it functions as a tumor suppressor gene, and also maintains hemostatic balance by inducing platelet fragmentation.