SMAD4

(redirected from SMAD family member 4)

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 ?
9] Human genes: CDKN2A (also known as p16), cyclin-dependent kinase inhibitor 2A; PRSS1, protease, serine 1 (trypsin 1); BRCA2, breast cancer 2, early onset; STK11, serine/threonine kinase 11; KRAS, v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog; TP53, tumor protein p53; SMAD4, SMAD family member 4.