SMAD4, also called SMAD family member 4, Mothers against decapentaplegic homolog 4, or DPC4 (Deleted in Pancreatic Cancer-4) is a highly conserved protein present in all metazoans. It belongs to the SMAD family of transcription factor proteins, which act as mediators of TGF-β signal transduction.

The SMAD4 gene provides instructions for making a protein involved in transmitting chemical signals from the cell surface to the nucleus. Learn about this gene and related health conditions.

2021年6月18日 · SMAD4 immunohistochemistry shows loss of nuclear expression in tumor cells, confirming the diagnosis. A patient presents with hernia sac mass, resection of which showed moderately differentiated adenocarcinoma of unknown primary. The patient underwent abdominal CT examination, which showed a possible pancreatic mass.

Smads (or SMADs) comprise a family of structurally similar proteins that are the main signal transducers for receptors of the transforming growth factor beta (TGF-B) superfamily, which are critically important for regulating cell development and growth.

2024年12月25日 · SMAD4 (SMAD Family Member 4) is a Protein Coding gene. Diseases associated with SMAD4 include Myhre Syndrome and Juvenile Polyposis Syndrome. Among its related pathways are Regulation of activated PAK-2p34 by proteasome mediated degradation and Gene expression (Transcription).

2023年7月17日 · If you have a mutation in the SMAD4 gene, this means you have a condition called Juvenile Polyposis syndrome (JPS). JPS increases your risk of developing polyps (growths of tissue) in your colon or rectum.

This review lists SMAD4 mutations in various types of cancer and summarizes recent advances on SMAD4 with focuses on the function, signaling pathway, and the possibility of SMAD4 as a prognostic indicator.

Human SMAD4 gene is located on the chromosome location 18q21.1, and is composed of 11 exons, spanning the full-length (1659 bp) transcript of SMAD4. 17 SMAD4 protein is composed of three domains: Mad Homology1 (MH1) domain at the N-terminus, Mad Homology2 (MH2) domain at the C-terminus, and a linker region between the MH1 and MH2 domains. 17 ...

The SMAD4 gene encodes a protein involved in signal transduction of the transforming growth factor-beta (see, e.g., TGFB1, 190180) superfamily and bone morphogenic proteins (see, e.g., BMP1, 112264) by mediating transcriptional activation of target genes.

2018年1月12日 · This review lists SMAD4 mutations in various types of cancer and summarizes recent advances on SMAD4 with focuses on the function, signaling pathway, and the possibility of SMAD4 as a prognostic indicator.