Literature associating SMAD1 and juvenile spinal muscular atrophy
Transforming growth factor-beta-signaling protein 1; Transcriptional modulator activated by BMP (bone morphogenetic proteins) type 1 receptor kinase. SMAD1 is a receptor-regulated SMAD (R-SMAD). SMAD1/OAZ1/PSMB4 complex mediates the degradation of the CREBBP/EP300 repressor SNIP1. May act synergistically with SMAD4 and YY1 in bone morphogenetic protein (BMP)-mediated cardiac-specific gene expression; Belongs to the dwarfin/SMAD family.
Synonyms: SMAD1, SMAD1p, hSMAD1, D6RAY1, D6RBH9 ...