Full name: ADAM metallopeptidase with thrombospondin type 1 motif 18

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: ADAMTS21; KNO2; MMCAT

Summary: 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]

Expression: Biased expression in placenta (RPKM 9.8), endometrium (RPKM 0.6) and 1 other tissue

Gene size: 152907bp

Exon count: 23