SMAD9 è un gene codificato dal simbolo SMAD9. È noto anche come: Mothers against decapentaplegic homolog 9; MAD homolog 9; Madh6; SMAD family member 9; SMAD 9; MADH6; MADH9; SMAD8. SMAD9 ha una massa di 52.49kDa, una lunghezza di amminoacidi di 467, ed è implicato in Pulmonary hypertension, primary, 2.
Offriamo 7 anticorpi contro SMAD9, allevati nel Coniglio, Topo e Capra, che sono adatti per WB, IHC, ELISA, ICC/IF e Citometria a Flusso con campioni derivati da Umano, Topo e Ratto.
Informazioni su geni e proteine
Riepilogo UniProt
Transcriptional modulator activated by BMP (bone morphogenetic proteins) type 1 receptor kinase. SMAD9 is a receptor-regulated SMAD (R-SMAD).
Sommario di 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.
Specificità del tessuto
Expressed in heart, brain, placenta, lung, skeletal muscle, prostate, testis, ovary and small intestine. Also expressed in fetal brain, lung and kidney.
Coinvolgimento nella malattia
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.
Somiglianze di sequenza
Belongs to the dwarfin/SMAD family.
Modifica post-translazionale
Phosphorylated on serine by BMP (bone morphogenetic proteins) type 1 receptor kinase.
Posizione cellulare
Cytoplasm. Nucleus.
In the cytoplasm in the absence of ligand. Migration to the nucleus when complexed with SMAD4 (By similarity).
