SMADs are members of the MAD-related family of molecules. MAD-related proteins are a family of intracellular proteins that are essential components in the signaling pathways of the serine/threonine kinase receptors of the transforming growth factor beta superfamily. SMADs can be divided into receptor-regulated SMADs (R-SMADs: SMAD1, 2, 5, 8 and 9), common-mediator SMAD (co-SMAD: SMAD4), and inhibitory SMADs (I-SMADs: SMAD6 and 7). SMAD1, 5, 8 and 9 have high degrees of homology and antibodies are available that recognize sequences common to all of them. SMAD8 and SMAD9 are typically used as alternate names for one another in the literature. Mutations of this gene can lead to pulmonary hypertension, primary 2 (PPH2).
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Protein Aliases: HGNC:6774; MAD; MAD homolog 9; Madh6; Mothers against decapentaplegic homolog 9; Mothers against decapentaplegic, drosophila, homolog of, 9; mothers against DPP homolog 9; RP11-421P11.9; SMAD; SMAD 9; SMAD family member 9; SMAD, mothers against DPP homolog 9; Smad8
Gene Aliases: MADH6; Madh8; MADH9; PPH2; SMAD8; SMAD8/9; SMAD8A; SMAD8B; SMAD9
Molecular Function: transcription factor