基因名：
SMAD1
产品别名：
BSP-1； BSP1； JV4-1； JV41； MADH1； MADR1； SMAD1； SMAD family member 1； SMAD family member 1； mothers against decapentaplegic homolog 1； MAD, mothers against decapentaplegic homolog 1； Mad-related protein 1； SMAD, mothers against DPP homolog 1； TGF-beta signaling protein 1； mothers against DPP homolog 1； transforming growth factor-beta signaling protein 1； Smad同源物1(Smad1)； 磷酸化细胞信号转导分子Smad-1； 磷酸化细胞信号转导分子Smad-1/5； 细胞信号转导分子Smad-1；
背景信息：
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.
