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Rabbit Anti-SMAD9/FITC Conjugated antibody
background:
SMAD9 is a member of the MAD-related family of molecules. MAD-related proteins are a recently identified family of intracellular proteins that are thought to be essential components in the signaling pathways of the serine/threonine kinase receptors of the transforming growth factor beta superfamily.
Function:
Transcriptional modulator activated by BMP (bone morphogenetic proteins) type 1 receptor kinase. SMAD9 is a receptor-regulated SMAD (R-SMAD).
Subunit:
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 modifications:
Phosphorylated on serine by BMP (bone morphogenetic proteins) type 1 receptor kinase.
DISEASE:
Defects in SMAD9 may be a cause of primary pulmonary hypertension (PPH1) [MIM:178600]. 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 PPH1 is rare, cases secondary to known etiologies are more common and include those associated with the appetite-suppressant drugs.
Similarity:
Belongs to the dwarfin/SMAD family.
Contains 1 MH1 (MAD homology 1) domain.
Contains 1 MH2 (MAD homology 2) domain.
Database links:
Entrez Gene: 4093 Human
Entrez Gene: 55994 Mouse
Entrez Gene: 85435 Rat
Omim: 603295 Human
SwissProt: O15198 Human
SwissProt: Q9JIW5 Mouse
SwissProt: O54835 Rat
Unigene: 123119 Human
Unigene: 244353 Mouse
Unigene: 10862 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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