ADAMTS18 (Entrez ID: 170692)

Entrez Gene ID 170692
Official Gene Symbol ADAMTS18 (GeneCards)
Full name ADAM metallopeptidase with thrombospondin type 1 motif 18
Location 16q23.1
Other ids Vega : OTTHUMG00000137619
MIM : 607512
HGNC : HGNC:17110
Ensembl : ENSG00000140873
Other names KNO2, MMCAT, ADAMTS21
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]

Variants

Found 68 variants in this database.