SMAD4

(redirected from MADH4)

SMAD4

A gene on chromosome 18q21.1 that encodes a SMAD family protein, named for their similarity to the Drosophila gene Mothers Against Decapentaplegic (MAD), which are signal transducers and transcription modulators of multiple signalling pathways. SMAD4 forms homomeric complexes and heteromeric complexes with other activated SMADs; these accumulate in the nucleus and regulate target gene transcription. SMAD4 binds to DNA and recognizes an 8-bp palindromic sequence, the SMAD-binding element (SBE).
 
Molecular pathology
SMAD4 mutations or deletions are linked to hereditary haemorrhagic telangiectasia syndrome, juvenile polyposis syndrome and pancreatic cancer.
References in periodicals archive ?
A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).
Evaluation of candidate genes MAP2K4, MADH4, ACVR1B, and BRCA2 in familial pancreatic cancer: deleterious BRCA2 mutations in 17%.
96 MADH4 MAD, mothers against decapentaplegic homolog 4 (Drosophila) Hs.
as follows: Factor V, 5'-GCCCAGTGCTTAACAAGACCA-3' and 5'-AAGGTTACTTCAAGGACAAAATAC-3'; BRCA2, 5'-TATAGGGAAGCTTCATAAGTCAG-3' and 5'-ACCACCTTCAACATTTAAGTTATT-3'; FLT3, 5'-GCAATTTAGGTATGAAAGCCAGC-3' and 5'-CTTTCAGCATTTTGA000CAACC-3'; MADH4, 5'-TGAAATCATAAGATGACATCTATGAATG-3' and 5'-TCCGGGATGGGGCGGCATAG-3'; 16S ribosomal DNA, 5'-CACAAGCGGTGGAGCATGTGG-3' and 5'-AGGCCCGGGAACGTATTCAC-3'.
For MADH4 analysis, we used DNA from xenografted tumors as the template.