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Scientific Background: SMAD9 or SMAD family member 9 is a member of the SMAD family. SMAD9 transduces signals from TGF-beta family members which regulate growth, differentiation, apoptosis, and development. SMAD9 is activated by bone morphogenetic proteins and it interacts with SMAD4 (1). SMAD9 positively and negatively regulate BMP signaling, respectively. SMAD9, also known as SMAD8 may play a role in both pulmonary hypertension and lung tumorigenesis (2). Mutations in SMAD9 in patient with pulmonary arterial hypertension (PAH) have been identified and this may be involved in the pathogenesis of PAH.
2. Huang, Z. et.al: Defective pulmonary vascular remodeling in Smad8 mutant mice. Hum. Molec. Genet. 18: 2791-2801, 2009.
NCBI and Uniprot Product Information
NCBI Description
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.[provided by RefSeq, Jan 2010]
Uniprot Description
Function: Transcriptional modulator activated by BMP (bone morphogenetic proteins) type 1 receptor kinase. SMAD9 is a receptor-regulated SMAD (R-SMAD).
Subunit structure: Interaction with the co-SMAD SMAD4. Interacts with PEBP2-alpha subunit.
Subcellular location: Cytoplasm
By similarity. Nucleus
By similarity. Note: In the cytoplasm in the absence of ligand. Migration to the nucleus when complexed with SMAD4
By similarity.
Tissue specificity: Expressed in heart, brain, placenta, lung, skeletal muscle, prostate, testis, ovary and small intestine. Also expressed in fetal brain, lung and kidney.
Post-translational modification: Phosphorylated on serine by BMP (bone morphogenetic proteins) type 1 receptor kinase.
Involvement in disease: Pulmonary hypertension, primary, 2 (PPH2) [MIM:615342]: 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.Note: The disease may be caused by mutations affecting the gene represented in this entry. Ref.9
Sequence similarities: Belongs to the dwarfin/SMAD family.Contains 1 MH1 (MAD homology 1) domain.Contains 1 MH2 (MAD homology 2) domain.
Research Articles on SMAD9
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Product Notes
The SMAD9 smad9 (Catalog #AAA515252) is a Recombinant Protein produced from E Coli and is intended for research purposes only. The product is available for immediate purchase. The tag for this protein is GST tag!!Expression System||E.coli!!Source Note||Recombinant full-length human SMAD9 was expressed by baculovirus in E.coli cells. AAA Biotech's SMAD9 can be used in a range of immunoassay formats including, but not limited to, Western Blot (WB). Researchers should empirically determine the suitability of the SMAD9 smad9 for an application not listed in the data sheet. Researchers commonly develop new applications and it is an integral, important part of the investigative research process. It is sometimes possible for the material contained within the vial of "SMAD9, Recombinant Protein" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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