TGF-beta receptor signaling in skeletal dysplasias (Homo sapiens)

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This diagram shows which skeletal dysplasias are caused by abnormalities in in TGF-beta signalling. The diagram is based on pathway: TGF-beta Receptor Signaling (Homo sapiens).

Dotted arrows indicates that a disease is caused by mutation in the respective gene.

The exact role of ADAMTS10 and ADAMTSL2 is currently unknown, they are known to interact with FBN1.

The Transforming growth factor beta (TGFβ) signaling pathway is involved in many cellular processes in both the adult organism and the developing embryo including cell growth, cell differentiation, apoptosis, cellular homeostasis and other cellular functions. In spite of the wide range of cellular processes that the TGFβ signaling pathway regulates, the process is relatively simple. TGFβ superfamily ligands bind to a type II receptor, which recruits and phosphorylates a type I receptor. The type I receptor then phosphorylates receptor-regulated SMADs (R-SMADs) which can now bind the coSMAD SMAD4. R-SMAD/coSMAD complexes accumulate in the nucleus where they act as transcription factors and participate in the regulation of target gene expression. (source: WikiPedia).