ADAMTS Like 2
ADAMTS Like 2 (ADAMTSL2) is a secreted, protease-dead member of the ADAMTS-like subgroup, best defined through human skeletal genetics. Biallelic mutations in ADAMTSL2 cause geleophysic dysplasia, a recessive disorder combining short stature, stiff joints, characteristic facies and progressive cardiac valve thickening. Mechanistically, ADAMTSL2 binds latent transforming growth factor-beta binding proteins and associates with fibrillin microfibrils, so loss of the protein perturbs latent TGF-beta activation. Recombinant ADAMTSL2 is therefore a key reagent for studying microfibril-TGF-beta crosstalk and inherited connective tissue disorders. Expression studies report the transcript in skin, cartilage and heart, tissues central to the geleophysic phenotype.
