ADAMTS18

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]

Description

ADAM metallopeptidase with thrombospondin type 1 motif 18

Tissue specificity

Group enriched (brain, placenta)

Subcell location

Midbody, Mitotic spindle

Predicted location

Intracellular, Secreted to extracellular matrix

Protein family

Cancer-related genes
Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Predicted secreted proteins

Chromosome

16:q23.1 (77247813 - 77435034)

Ensembl ID

ENSG00000140873  (ver. 103.38)

Orthologs

Mouse Adamts18: ENSMUSG00000053399

UniProt

Q8TE60

neXtProt

NX_Q8TE60

Human splice variants
Mouse splice variants