ADAMTS17 gene

ADAM metallopeptidase with thrombospondin type 1 motif 17

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 promote breast cancer cell growth and survival. Mutations in this gene are associated with a Weill-Marchesani-like syndrome, which is characterized by lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature. [provided by RefSeq, May 2016]

From NCBI Gene:

  • Weill-Marchesani-like syndrome

From UniProt:

Weill-Marchesani-like syndrome (WMLS): A disorder characterized by many of the key features of Weill-Marchesani syndrome, including lenticular myopia, ectopia lentis, glaucoma, spherophakia and short stature. However, the characteristic brachydactyly or decreased joint flexibility of Weill-Marchesani syndrome are absent. [MIM:613195]

Cytogenetic Location: 15q26.3, which is the long (q) arm of chromosome 15 at position 26.3

Molecular Location: base pairs 99,971,438 to 100,342,924 on chromosome 15 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 15q26.3, which is the long (q) arm of chromosome 15 at position 26.3