DISEASES

Disease-gene associations mined from literature

Literature associating SMAD6 and thoracic aortic aneurysm

SMAD6 [ENSP00000288840]

Mothers against decapentaplegic homolog 6; Acts as a mediator of TGF-beta and BMP antiflammatory activity. Suppresses IL1R-TLR signaling through its direct interaction with PEL1, preventing NF-kappa-B activation, nuclear transport and NF-kappa-B-mediated expression of proinflammatory genes. May block the BMP-SMAD1 signaling pathway by competing with SMAD4 for receptor-activated SMAD1-binding. Binds to regulatory elements in target promoter regions.

Synonyms:  SMAD6,  SMAD6p,  hSMAD6,  H0YK80,  H0YM33 ...

Linkouts:  STRING  Pharos  UniProt  OMIM