Disease-gene associations mined from literature

Literature associating GDF6 and microphthalmia

GDF6 [ENSP00000287020]

Growth/differentiation factor 6; 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 (By similarity). ; Belongs to the TGF-beta family.

Synonyms:  GDF6,  GDF6p,  hGDF6,  A0A087X0X2,  A0A0S2A5D6 ...

Linkouts:  STRING  Pharos  UniProt  OMIM