Name
|
ADAM metallopeptidase with thrombospondin type 1 motif 17 | Cytological Location | 15q26.3 |
| Brief Description | ADAM metallopeptidase with thrombospondin type 1 motif 17 |
| description | 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] |
Gene --> GO terms.
Gene -> HPO annotation (Human Phenotype Ontology)
Mouse Gene --> Allele [Phenotype]
Gene --> Chromosomal location.
Gene --> GO terms.
Gene --> Overlapping genes.
Gene (Hum OR Rat) --> Mouse Allele (Phenotype)
Gene --> Alleles and Disease (clinVar data)
Gene -> HPO annotation (Human Phenotype Ontology)
Mouse Gene --> Allele [Phenotype]
