ADAMTSL1 Chromosome 9

ADAMTS like 1
1 variant 1 Health Risk

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What This Gene Does
This gene encodes a secreted protein and member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) family. This protein lacks the metalloproteinase and disintegrin-like domains, which are typical of the ADAMTS family, but contains other ADAMTS domains, including the thrombospondin type 1 motif. This protein may have important functions in the extracellular matrix. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"I-set domain containing|ADAMTS like|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
9p22.2-p22.1
Ensembl
ENSG00000178031
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS78291060 Health Risk Conflicting classifications of pathogenicity
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