GDF11

Function

Secreted signal that acts globally to regulate anterior/posterior axial patterning during development. May play critical roles in patterning both mesodermal and neural tissues (By similarity). It is required for proper vertebral patterning and orofacial development (PubMed:31215115). Signals through activin receptors type-2, ACVR2A and ACVR2B, and activin receptors type-1, ACVR1B, ACVR1C and TGFBR1 leading to the phosphorylation of SMAD2 and SMAD3 (PubMed:28257634).

Involvement in disease

Vertebral hypersegmentation and orofacial anomalies

VHO

An autosomal dominant disease characterized by supernumerary ribs, supernumerary cervical, thoracic and/or lumbar vertebrae, and orofacial anomalies such as cleft lip with or without cleft palate in most patients.

None

The disease may be caused by variants affecting the gene represented in this entry.

Post-translational modifications

Synthesized as large precursor molecule that undergoes proteolytic cleavage by furin-like proteases (PubMed:31215115). This produces an inactive form consisting of the mature C-terminal portion non-covalently bound to its cleaved N-terminal propeptide. Activation of the mature form requires additional cleavage of the propeptide by a tolloid-like metalloproteinase.

Sequence Similarities

Belongs to the TGF-beta family.

Tissue Specificity

In the embryo, strong expression is seen in the palatal epithelia, including the medial edge epithelial and midline epithelial seam of the palatal shelves. Less pronounced expression is also seen throughout the palatal shelf and tongue mesenchyme.

Cellular localization

• Secreted

Alternative names

BMP11, GDF11, Growth/differentiation factor 11, GDF-11, Bone morphogenetic protein 11, BMP-11

Database links

swissprot:O95390 entrezGene:10220 entrezGene:2660 swissprot:O14793 omim:603936