rs886037825
This is a variant in the BGN gene that changes a glycine to an serine.
▶ClinVar annotation
Cardiovascular phenotype; Familial thoracic aortic aneurysm and aortic dissection (TAAD); Meester-Loeys syndrome; X-linked spondyloepimetaphyseal dysplasia
View on ClinVar →About BGN
This gene encodes a member of the small leucine-rich proteoglycan (SLRP) family of proteins. The encoded preproprotein is proteolytically processed to generate the mature protein, which plays a role in bone growth, muscle development and regeneration, and collagen fibril assembly in multiple tissues. This protein may also regulate inflammation and innate immunity. Additionally, the encoded protein may contribute to atherosclerosis and aortic valve stenosis in human patients. This gene and the related gene decorin are thought to be the result of a gene duplication. [provided by RefSeq, Nov 2015]
View all BGN variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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