Background
SMAD5 (SMAD Family Member 5) is a Protein Coding gene. Diseases associated with SMAD5 include Fibrodysplasia Ossificans Progressiva and Deafness, Autosomal Dominant 52. Among its related pathways are TGF-beta receptor signaling in skeletal dysplasias and TGF-Beta Pathway. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and RNA polymerase II core promoter sequence-specific DNA binding. An important paralog of this gene is SMAD1. Transcriptional modulator activated by BMP (bone morphogenetic proteins) type 1 receptor kinase. SMAD5 is a receptor-regulated SMAD (R-SMAD). ( SMAD5_HUMAN,Q99717 )