ADAMTS15 Chromosome 11

ADAM metallopeptidase with thrombospondin type 1 motif 15
4 variants 4 Health Risk

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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
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