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Transcriptional modulator activated by BMP (bone morphogenetic proteins) type 1 receptor kinase. SMAD9 is a receptor-regulated SMAD (R-SMAD).
Gene References into Functions
Our results exclude a significant role for the SMAD9v90m mutation in juvenile polyposis syndrome PMID: 28424237
Mutations in SMAD9 gene encoding for transforming growth factor (TGF)-[beta] superfamily have been identified in Pulmonary Arterial Hypertension. PMID: 28582316
Phosphorylated Smad1/5/8/9 specifically bound to the BREs of Smad8/9 gene. The present study reveals that Smad8/9 is a unique R-Smad regulated through the BMP pathway at the mRNA level. PMID: 26748560
Case Report: hamartomatous olyposis and gastrointestinal ganglioneuromas with SMAD9 germline mutation that reduces PTEN expression. PMID: 26122142
ATP production by NaF promotes hypertrophy-like changes via activation of phospho-Smad8 PMID: 23384547
Study described the first mutation in SMAD8 in a patient with IPAH, and suggested the involvement of SMAD8 in the pathogenesis of PAH. PMID: 19211612
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Involvement in disease
Pulmonary hypertension, primary, 2 (PPH2)
Subcellular Location
Cytoplasm. Nucleus.
Protein Families
Dwarfin/SMAD family
Tissue Specificity
Expressed in heart, brain, placenta, lung, skeletal muscle, prostate, testis, ovary and small intestine. Also expressed in fetal brain, lung and kidney.