ADAMTS18
ADAMTS18 belongs to the ADAMTS9/ADAMTS20-related branch and is recognized chiefly through human genetics. Biallelic mutations produce a distinctive ocular disorder combining microcornea, myopia and chorioretinal degeneration, with some individuals showing additional skeletal or dental features, implicating the enzyme in extracellular-matrix organization of the eye. Expression studies detect ADAMTS18 transcripts in fetal and adult tissues, including eye, kidney and brain, and the enzyme is secreted with predicted matrix-processing activity, although its physiological substrates are not yet defined. Recombinant ADAMTS18 is used in ocular matrix biology and connective tissue development research.
