Gene: ADAMTS18

Alternate names for this Gene: ADAMTS21|KNO2|MMCAT

Gene 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.

Gene is located in Chromosome: 16

Location in Chromosome : 16q23.1

Description of this Gene: ADAM metallopeptidase with thrombospondin type 1 motif 18

Type of Gene: protein-coding

rs16945612 in ADAMTS18 gene and Bone Density PMID 19249006 2009 Genome-wide association and follow-up replication studies identified ADAMTS18 and TGFBR3 as bone mass candidate genes in different ethnic groups.

rs11864477 in ADAMTS18 gene and Bone Mineral Density Test PMID 19249006 2009 Genome-wide association and follow-up replication studies identified ADAMTS18 and TGFBR3 as bone mass candidate genes in different ethnic groups.

rs397515468 in ADAMTS18 gene and MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS PMID 23818446 2013 The syndrome of microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) is caused by mutations in ADAMTS18.

rs112141546 in ADAMTS18 gene and Precursor Cell Lymphoblastic Leukemia Lymphoma PMID 27114598 2016 Clinical and Genetic Risk Factors for Acute Pancreatitis in Patients With Acute Lymphoblastic Leukemia.