rs1242358787
This variant is located in the SMAD3 gene.
▶ClinVar annotation
not provided; Familial thoracic aortic aneurysm and aortic dissection
View on ClinVar →About SMAD3
The SMAD family of proteins are a group of intracellular signal transducer proteins similar to the gene products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene Sma. The SMAD3 protein functions in the transforming growth factor-beta signaling pathway, and transmits signals from the cell surface to the nucleus, regulating gene activity and cell proliferation. This protein forms a complex with other SMAD proteins and binds DNA, functioning both as a transcription factor and tumor suppressor. Mutations in this gene are associated with aneurysms-osteoarthritis syndrome and Loeys-Dietz Syndrome 3. [provided by RefSeq, May 2022]
View all SMAD3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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