Transforming Growth Factor beta 1 (TGFβ1) [3C11]

Transforming growth factor betas (TGFβs) belong to the TGF-β superfamily of cytokines that play a critical role in regulating cell proliferation and differentiation, developmental patterning and morphogenesis, and disease pathogenesis. Three TGFβs have been identified. TGF-β1, TGF-β2, and TGF-β3 are encoded by distinct genes and are expressed in a tissue specific manner. TGF-β proteins are synthesized as precursor proteins that are cleaved and reassembled in association with other proteins to form latent complexes. TGFβ1 is highly expressed in bone. It controls proliferation, differentiation and other functions in many cell types. Many cells synthesize TGFB1 and have specific receptors for it. Defects in TGFβ1 are the cause of Camurati-Engelmann disease (CE) also known as progressive diaphyseal dysplasia 1 (DPD1). CE is an autosomal dominant disorder characterized by hyperostosis and sclerosis of the diaphyses of long bones. The disease typically presents in early childhood with pain, muscular weakness and waddling gait, and in some cases other features such as exophthalmos, facial paralysis, hearing difficulties and loss of vision.