Required to prevent excessive muscle loss upon denervation. This function requires SMAD4 and is mediated by phosphorylated SMAD1/5/8 (By similarity). Could be involved in bone and cartilage formation. Chondrogenic signaling is mediated by the high-affinity receptor BMPR1B. Binds bacterial lipopolysaccharide (LPS) et mediates LPS-induced inflammatory response, including TNF secretion by monocytes.
[1]Mutations in GDF5 presenting as semidominant brachydactyly A1."Byrnes A.M., Racacho L., Nikkel S.M., Xiao F., MacDonald H., Underhill T.M., Bulman D.E. Hum. Mutat. 31:1155-1162(2010). [2]Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism."Yang W., Cao L., Liu W., Jiang L., Sun M., Zhang D., Wang S., Lo W.H., Luo Y., Zhang X.J. Hum. Genet. 53:368-374(2008). [3]Brachydactyly type A2 associated with a defect in proGDF5 processing."Ploeger F., Seemann P., Schmidt-von Kegler M., Lehmann K., Seidel J., Kjaer K.W., Pohl J., Mundlos S.Hum. Mol. Genet. 17:1222-1233(2008).
