{"symbol":"ADAMTS18","synonyms":["ADAMTS21","MMCAT","KNO2"],"name":"ADAM metallopeptidase with thrombospondin type 1 motif, 18","description":"This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protein, which may regulate hemostatic balance and function as a tumor suppressor. Mutations in this gene may be associated with microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) and cone-rod dystrophy in human patients. [provided by RefSeq, May 2016]","ncbiEntrezGeneId":170692,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/170692","proteins":[{"symbol":"ATS18_HUMAN","href":"/api/1.0/protein/ATS18_HUMAN"}],"hgncRootFamilies":[{"name":"Metzincin metallopeptidases","href":"/api/1.0/gene_family/Metzincin+metallopeptidases"}]}