SMAD9 est un gène codé par le symbole SMAD9. Il est également connu sous le nom de: Mothers against decapentaplegic homolog 9; MAD homolog 9; Madh6; SMAD family member 9; SMAD 9; MADH6; MADH9; SMAD8. SMAD9 a une masse de 52.49kDa, une longueur d'acide aminé de 467, et est impliqué dans Pulmonary hypertension, primary, 2.
Nous proposons 7 des anticorps contre SMAD9, élevé dans Lapin, Souris et Chèvre, qui sont appropriés pour le WB, IHC, ELISA, ICC/IF et Cytométrie en Flux avec des échantillons dérivés de Humain, Souris et Rat.
Informations sur les Gènes et les Protéines
Résumé UniProt
Transcriptional modulator activated by BMP (bone morphogenetic proteins) type 1 receptor kinase. SMAD9 is a receptor-regulated SMAD (R-SMAD).
Résumé Entrez
The protein encoded by this gene is a member of the SMAD family, which transduces signals from TGF-beta family members. The encoded protein is activated by bone morphogenetic proteins and interacts with SMAD4. Two transcript variants encoding different isoforms have been found for this gene.
Spécificité tissulaire
Expressed in heart, brain, placenta, lung, skeletal muscle, prostate, testis, ovary and small intestine. Also expressed in fetal brain, lung and kidney.
Implication dans la maladie
Pulmonary hypertension, primary, 2: A rare disorder characterized by plexiform lesions of proliferating endothelial cells in pulmonary arterioles. The lesions lead to elevated pulmonary arterial pression, right ventricular failure, and death. The disease can occur from infancy throughout life and it has a mean age at onset of 36 years. Penetrance is reduced. Although familial pulmonary hypertension is rare, cases secondary to known etiologies are more common and include those associated with the appetite-suppressant drugs.
Similitudes de séquence
Belongs to the dwarfin/SMAD family.
Modification post-traductionnelle
Phosphorylated on serine by BMP (bone morphogenetic proteins) type 1 receptor kinase.
Localisation cellulaire
Cytoplasm. Nucleus.
In the cytoplasm in the absence of ligand. Migration to the nucleus when complexed with SMAD4 (By similarity).
