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TGFB3A gene on chromosome 14q24 that encodes a member of the transforming growth factor beta (TGFB) family of cytokines. These multifunctional peptides up- and downregulate proliferation, differentiation, adhesion, migration, death and other functions in many cell types. TGFBs transduce their signal by binding to transmembrane growth factor receptors (TGFBR1 and TGFBR2) and their downstream effectors, the SMAD proteins; disruption of the TGFB/SMAD pathway has been implicated in various cancers. TGFB3 is involved in embryogenesis and cell differentiation.
TGFB3 mutations cause familial arrhythmogenic right ventricular dysplasia type 1.