| Description: | The secreted polypeptide, encoded by this gene, binds andinactivates members of the transforming growth factor-beta(TGF-beta) superfamily signaling proteins, such as bonemorphogenetic protein-4 (BMP4). By diffusing through extracellularmatrices more efficiently than members of the TGF-beta superfamily,this protein may have a principal role in creating morphogenicgradients. The protein appears to have pleiotropic effect, bothearly in development as well as in later stages. It was originallyisolated from Xenopus based on its ability to restore normaldorsal-ventral body axis in embryos that had been artificiallyventralized by UV treatment. The results of the mouse knockout ofthe ortholog suggest that it is involved in numerous developmentalprocesses, such as neural tube fusion and joint formation.Recently, several dominant human NOG mutations in unrelatedfamilies with proximal symphalangism (SYM1) and multiple synostosessyndrome (SYNS1) were identified; both SYM1 and SYNS1 have multiplejoint fusion as their principal feature, and map to the same region(17q22) as this gene. All of these mutations altered evolutionarilyconserved amino acid residues. The amino acid sequence of thishuman gene is highly homologous to that of Xenopus, rat and mouse. |
