Recombinant Human Growth/differentiation factor 6 (GDF6)

Uniprot Id

Q6KF10

Target Species

Human

Target Name

GDF6

Target Full Name

Growth/differentiation factor 6

Target Function

Growth factor that controls proliferation and cellular differentiation in the retina and bone formation. Plays a key role in regulating apoptosis during retinal development. Establishes dorsal-ventral positional information in the retina and controls the formation of the retinotectal map. Required for normal formation of bones and joints in the limbs, skull, digits and axial skeleton. Plays a key role in establishing boundaries between skeletal elements during development. Regulation of GDF6 expression seems to be a mechanism for evolving species-specific changes in skeletal structures. Seems to positively regulate differentiation of chondrogenic tissue through the growth factor receptors subunits BMPR1A, BMPR1B, BMPR2 and ACVR2A, leading to the activation of SMAD1-SMAD5-SMAD8 complex. The regulation of chondrogenic differentiation is inhibited by NOG. Also involved in the induction of adipogenesis from mesenchymal stem cells. This mechanism acts through the growth factor receptors subunits BMPR1A, BMPR2 and ACVR2A and the activation of SMAD1-SMAD5-SMAD8 complex and MAPK14/p38.

Target Involvement

Klippel-Feil syndrome 1, autosomal dominant (KFS1); Microphthalmia, isolated, 4 (MCOP4); Leber congenital amaurosis 17 (LCA17)

Target Subcellular Location

Secreted.

Target Protein Families

TGF-beta family

Target Synonyms

GDF6; BMP13; GDF16Growth/differentiation factor 6; GDF-6; Bone morphogenetic protein 13; BMP-13; Growth/differentiation factor 16