ADAMTS16 Chromosome 5

ADAM metallopeptidase with thrombospondin type 1 motif 16
1 variant 1 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 protein, which may inhibit chondrosarcoma cell proliferation and migration. This gene may regulate blood pressure. [provided by RefSeq, May 2016]
Gene Info
Gene Group
ADAM metallopeptidases with thrombospondin type 1 motif
Locus Type
gene with protein product
Location
5p15.32
Ensembl
ENSG00000145536
Associated Conditions (2)
46
XY disorder of sex development
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS2477356200 Health Risk Likely pathogenic 46, XY disorder of sex development, 46
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