GDF6 : growth differentiation factor 6
Description
The GDF6 (growth differentiation factor 6) is a protein-coding gene located on chromosome 8.
The GDF6 gene provides instructions for making a protein that is part of the transforming growth factor beta (TGFβ) superfamily, a group of proteins that help control the growth and development of tissues throughout the body. Within the TGFβ superfamily, the GDF6 protein belongs to the bone morphogenetic protein family, which is involved in regulating the growth and maturation (differentiation) of bone and cartilage. Cartilage is a tough but flexible tissue that makes up much of the skeleton during early development. The proteins in this family are regulators of cell growth and differentiation both before and after birth. The GDF6 protein is necessary for the formation of bones and joints in the limbs, skull, spine, chest, and ribs. The protein is involved in setting up boundaries between bones during skeletal development. The GDF6 protein has also been found to be involved in the development of the eyes, specifically the specialized light-sensitive tissue that lines the back of the eye called the retina. The GDF6 protein likely plays a role in the survival of specialized cells within the retina that detect light and color (photoreceptor cells).
GDF6, also known as BMP13, is a growth factor that plays a crucial role in regulating cell proliferation and differentiation in the retina and bone formation. It is involved in apoptosis during retinal development, establishing dorsal-ventral positional information in the retina, and controlling the formation of the retinotectal map. GDF6 is essential for normal bone and joint development in the limbs, skull, digits, and axial skeleton. It plays a key role in establishing boundaries between skeletal elements during development. Regulation of GDF6 expression appears to be a mechanism for evolving species-specific skeletal structure changes. GDF6 positively regulates chondrogenic tissue differentiation through growth factor receptor subunits BMPR1A, BMPR1B, BMPR2, and ACVR2A, leading to activation of the SMAD1-SMAD5-SMAD8 complex. However, NOG inhibits chondrogenic differentiation. GDF6 is also involved in inducing adipogenesis from mesenchymal stem cells through the growth factor receptor subunits BMPR1A, BMPR2, and ACVR2A, activating the SMAD1-SMAD5-SMAD8 complex and MAPK14/p38.
GDF6 is also known as BMP-13, BMP13, CDMP2, KFM, KFS, KFS1, KFSL, SGM1, SYNS4.
Associated Diseases
- Leber congenital amaurosis
- Leber congenital amaurosis 17
- Multiple synostoses syndrome 4
- Microphthalmia, isolated 4
- Microphthalmia, isolated, with coloboma 6
- Isolated Klippel-Feil syndrome
- Klippel-Feil syndrome 1, autosomal dominant
- Microphthalmia
- Coloboma
- Klippel-Feil syndrome
