ADAMTS1 Chromosome 21
ADAM metallopeptidase with thrombospondin type 1 motif 1
Upload your DNA to see your personal genotypes for variants in ADAMTS1.
What This Gene Does
This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) protein family. Members of the family 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 protein encoded by this gene contains two disintegrin loops and three C-terminal TS motifs and has anti-angiogenic activity. The expression of this gene may be associated with various inflammatory processes as well as development of cancer cachexia. This gene is likely to be necessary for normal growth, fertility, and organ morphology and function. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
ADAM metallopeptidases with thrombospondin type 1 motif
Locus Type
gene with protein product
Location
21q21.3
Ensembl
ENSG00000154734
Associated Conditions (1)
Premature ovarian failure
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS375553171 | Health Risk | Likely pathogenic | Premature ovarian failure, Premature ovarian failure |