Recombinant Human Noggin (NOG)

Uniprot Id

Q13253

Target Species

Human

Target Name

NOG

Target Full Name

Noggin

Target Function

Inhibitor of bone morphogenetic proteins (BMP) signaling which is required for growth and patterning of the neural tube and somite. Essential for cartilage morphogenesis and joint formation. Inhibits chondrocyte differentiation through its interaction with GDF5 and, probably, GDF6.

Target Involvement

Symphalangism, proximal 1A (SYM1A); Multiple synostoses syndrome 1 (SYNS1); Tarsal-carpal coalition syndrome (TCC); Stapes ankylosis with broad thumb and toes (SABTS); Brachydactyly B2 (BDB2)

Target Subcellular Location

Secreted.

Target Protein Families

Noggin family

Target Research Area

Developmental Biology

Target Synonyms

Nog; NOGG_HUMAN; Noggin; SYM 1; SYM1; Symphalangism 1 (proximal); Synostoses (multiple) syndrome 1; SYNS 1; SYNS1

Target Background

The secreted polypeptide, encoded by this gene, binds and inactivates members of the transforming growth factor-beta (TGF-beta) superfamily signaling proteins, such as bone morphogenetic protein-4 (BMP4). By diffusing through extracellular matrices more efficiently than members of the TGF-beta superfamily, this protein may have a principal role in creating morphogenic gradients. The protein appears to have pleiotropic effect, both early in development as well as in later stages. It was originally isolated from Xenopus based on its ability to restore normal dorsal-ventral body axis in embryos that had been artificially ventralized by UV treatment. The results of the mouse knockout of the ortholog suggest that it is involved in numerous developmental processes, such as neural tube fusion and joint formation. Recently, several dominant human NOG mutations in unrelated families with proximal symphalangism (SYM1) and multiple synostoses syndrome (SYNS1) were identified; both SYM1 and SYNS1 have multiple joint fusion as their principal feature, and map to the same region (17q22) as this gene. All of these mutations altered evolutionarily conserved amino acid residues. The amino acid sequence of this human gene is highly homologous to that of Xenopus, rat and mouse.