ADAMTS18 gene

ADAM metallopeptidase with thrombospondin type 1 motif 18

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From NCBI Gene:

  • Microcornea, myopic chorioretinal atrophy, and telecanthus

From UniProt:

Microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT): A ocular syndrome characterized by microcornea and myopic chorioretinal atrophy. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye. In addition to ocular findings, some patients have telecanthus and posteriorly rotated ears. [MIM:615458]

Cytogenetic Location: 16q23.1, which is the long (q) arm of chromosome 16 at position 23.1

Molecular Location: base pairs 77,282,128 to 77,435,114 on chromosome 16 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 16q23.1, which is the long (q) arm of chromosome 16 at position 23.1
  • ADAMTS21
  • KNO2
  • MMCAT