Aliases ADAMTS17 Human Mouse Ensembl ENSG00000140470 | Species Human Entrez 170691 | |
External IDs MGI: 3588195 HomoloGene: 16373 GeneCards: ADAMTS17 | ||
ADAM metallopeptidase with thrombospondin type 1 motif, 17 is a protein that in humans is encoded by the ADAMTS17 gene.
Contents
Function
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 protein encoded by this gene has a high sequence similarity to the protein encoded by ADAMTS19, another family member. The function of this protein has not been determined. [provided by RefSeq, Jul 2008].
Clinical significance
Mutations in ADAMTS17 are associated with Weill-Marchesani syndrome .