GDF-5isamemberofthebonemorphogeneticprotein(BMP)familyandtheTGF-betasuperfamily.Thisgroupofproteinsischaracterizedbyapolybasicproteolyticprocessingsitewhichiscleavedtoproduceamatureproteincontainingsevenconservedcysteineresidues.Themembersofthisfamilyareregulatorsofcellgrowthanddifferentiationinbothembryonicandadulttissues.Mutationsinthisgeneareassociatedwithacromesomelicdysplasia,Hunter-Thompsontype;brachydactyly,typeC;andchondrodysplasia,Grebetype.Theseassociationsconfirmthatthegeneproductplaysaroleinskeletaldevelopment.
Image: GDF-5proteinstructureandsequence