THBS1 Chromosome 15
Thrombospondin 1
Upload your DNA to see your personal genotypes for variants in THBS1.
What This Gene Does
The protein encoded by this gene is a subunit of a disulfide-linked homotrimeric protein. This protein is an adhesive glycoprotein that mediates cell-to-cell and cell-to-matrix interactions. This protein can bind to fibrinogen, fibronectin, laminin, type V collagen and integrins alpha-V/beta-1. This protein has been shown to play roles in platelet aggregation, angiogenesis, and tumorigenesis. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Thrombospondin family
Locus Type
gene with protein product
Location
15q14
Ensembl
ENSG00000137801
Associated Conditions (2)
Autism spectrum disorder
Premature ovarian failure
Key Variants
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS796320749 | Health Risk | association | Autism spectrum disorder, Autism spectrum disorder |
| RS142519614 | Health Risk | Conflicting classifications of pathogenicity | Premature ovarian failure, Premature ovarian failure |
| RS144786467 | Health Risk | Conflicting classifications of pathogenicity | — |