Overview:

SMAD9 or SMAD family member 9 is a member of the SMAD family. SMAD9 transduces signals from TGF-beta family members which regulate growth, differentiation, apoptosis, and development. SMAD9 is activated by bone morphogenetic proteins and it interacts with SMAD4 (1). SMAD9 positively and negatively regulate BMP signaling, respectively. SMAD9, also known as SMAD8 may play a role in both pulmonary hypertension and lung tumorigenesis (2). Mutations in SMAD9 in patient with pulmonary arterial hypertension (PAH) have been identified and this may be involved in the pathogenesis of PAH.

Gene Aliases:

MADH6; MADH9; SMAD8; SMAD8A; SMAD8B

Genbank Number:

NM_001127217

References:

1. Nishita, M. et.al: Smad8B, a Smad8 splice variant lacking the SSXS site that inhibits Smad8-mediated signalling. Genes Cells 4: 583-591, 1999.2. Huang, Z. et.al: Defective pulmonary vascular remodeling in Smad8 mutant mice. Hum. Molec. Genet. 18: 2791-2801, 2009.