ADAMTS15 Chromosome 11
ADAM metallopeptidase with thrombospondin type 1 motif 15
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What This Gene Does
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 enzyme, which may play a role in versican processing during skeletal muscle development. This gene may function as a tumor suppressor in colorectal and breast cancers. [provided by RefSeq, May 2016]
Gene Info
Gene Group
ADAM metallopeptidases with thrombospondin type 1 motif
Locus Type
gene with protein product
Location
11q24.3
Ensembl
ENSG00000166106
Associated Conditions (3)
Arthrogryposis
distal
type 12
Key Variants
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2541545118 | Health Risk | Likely pathogenic | Arthrogryposis, distal, type 12 |
| RS2541520331 | Health Risk | Pathogenic | Arthrogryposis, distal, type 12 |
| RS754451064 | Health Risk | Pathogenic | Arthrogryposis, distal, type 12 |
| RS900442449 | Health Risk | Pathogenic | Arthrogryposis, distal, type 12 |