THSD7A Chromosome 7
Thrombospondin type 1 domain containing 7A
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What This Gene Does
The protein encoded by this gene is found almost exclusively in endothelial cells from placenta and umbilical cord. The encoded protein appears to interact with alpha(V)beta(3) integrin and paxillin to inhibit endothelial cell migration and tube formation. This protein may be involved in cytoskeletal organization. Variations in this gene may be associated with low bone mineral density in osteoporosis. [provided by RefSeq, Aug 2010]
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS200289410 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201552692 | Health Risk | Conflicting classifications of pathogenicity | — |