SMAD4 Human
Description
Product Specs
Product Science Overview
The SMAD family of proteins was first discovered in the fruit fly, Drosophila melanogaster. The name “Mothers Against Decapentaplegic” originates from a genetic screen in Drosophila, where mutations in the mother repressed the gene decapentaplegic in the embryo . The human homolog, SMAD4, was later identified and found to play a crucial role in various cellular processes.
In humans, the SMAD4 gene is located on chromosome 18, specifically from base pair 51,030,212 to 51,085,041 . The gene encodes a protein that is 552 amino acids long with a molecular weight of approximately 60.439 kDa . SMAD4 contains two functional domains known as MH1 and MH2, which are essential for its role in signal transduction .
SMAD4 is a central mediator in the TGF-β signaling pathway. This pathway is initiated when TGF-β ligands bind to their respective receptors on the cell surface, leading to the phosphorylation of receptor-regulated SMADs (R-SMADs) such as SMAD2, SMAD3, SMAD1, SMAD5, and SMAD8 . These phosphorylated R-SMADs then form a complex with SMAD4, which translocates to the nucleus to regulate the transcription of target genes .
The TGF-β signaling pathway, mediated by SMAD4, plays a critical role in various biological processes, including:
- Embryonic Development: It is involved in cell differentiation and pattern formation during early vertebrate development .
- Tissue Homeostasis: SMAD4 helps maintain tissue integrity and function by regulating cell proliferation and apoptosis .
- Immune Regulation: It modulates immune responses, contributing to immune tolerance and inflammation control .
- Tumor Suppression: SMAD4 acts as a tumor suppressor by inhibiting epithelial cell proliferation and reducing angiogenesis .
Mutations or deletions in the SMAD4 gene have been associated with several diseases, including:
- Pancreatic Cancer: Loss of SMAD4 function is a common event in pancreatic ductal adenocarcinoma .
- Juvenile Polyposis Syndrome: This hereditary condition is characterized by the development of numerous polyps in the gastrointestinal tract and an increased risk of colorectal cancer .
- Hereditary Hemorrhagic Telangiectasia Syndrome: A disorder that affects blood vessel formation, leading to abnormal bleeding .
Human recombinant SMAD4 is produced using recombinant DNA technology, which involves inserting the SMAD4 gene into a suitable expression system, such as bacteria or mammalian cells. This allows for the large-scale production of SMAD4 protein for research and therapeutic purposes.
