hSMAD1 , Transforming Growth Factor-Beta-Signaling Protein 1 , Transforming Growth Factor-beta-Signaling Protein 1 , Mothers Against DPP Homolog 1 , MADH1 , SMAD Family Member 1 , BSP1 , Mad-Related Protein 1 , SMAD 1 , JV4-1 , BSP-1 , SMAD1 , Mothers Against Decapentaplegic Homolog 1 , MAD Homolog 1 , MADR1
SMAD Family Member 1 (SMAD1) is a member of the dwarfin/SMAD family. SMAD1 has the highest expression in the heart and skeletal muscle, containing one MAD homology 1 domain and one MAD homology 2 domain, As a transcriptional modulator SMAD 1 is activated by bone morphogenetic proteins type 1 receptor kinase. Defects in SMAD1 may cause primary pulmonary hypertension (PPH1), characterized by plexiform lesions of proliferating endothelial cells in pulmonary arterioles. The lesions lead to elevated pulmonary arterial pression, right ventricular failure and death.
TMPJ-01129
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