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MADH7 Gene
Definition and Synonyms

Definition: Induced by TGF-beta and IFNG, ubiquitously expressed (lung and vascular endothelium highest) 31-kb human MADH7 Gene (SMAD Family) at 18q21.1 encodes 426-amino acid SMAD7 Protein, an Activin/TGFBR1 signaling inhibitory component containing DWA/MH1 and DWB/MH2 domains and lacking the C-terminal phosphorylation sites of other MAD proteins, suggesting distinct regulation. Adaptor SMAD7 constitutively recruits nuclear E3 ubiquitin ligase SMURF2 to TGFBR complexes preventing SMAD2 access and causing proteasomal and lysosomal receptor degradation. SMAD7-expressing cells are susceptible to apoptosis induced by TGFB, TNFA, serum withdrawal, or loss of cell adhesion. SMAD7 decreases NFKB activity, promoting apoptosis. RAS suppresses SMAD7 inhibition of NFKB and potentiation of apoptosis. MADH7 and MADH6 form complexes. (from LocusLink, Swiss-Prot, OMIM, and NCI)

Synonyms: MADH7 Gene, MADH7, MADH8, SMAD7

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