GDF6
GDF6 (growth differentiation factor 6, also known as BMP13, KFS, KFS1 and SGM1) is a secreted member of the TGF-beta superfamily. It controls proliferation and differentiation in the retina and during bone formation, and signals through SMAD transcription factors. Browse Assay Genie's current range of GDF6 research reagents below, or read on for the biology behind the target.
GDF6 is a growth factor that controls proliferation and cellular differentiation in the retina and in bone formation. In the developing retina it plays a key role in regulating apoptosis, establishes dorsal-ventral positional information and controls formation of the retinotectal map. In the skeleton it is required for normal formation of bones and joints in the limbs, skull, digits and axial skeleton, and it helps establish boundaries between skeletal elements. Regulation of GDF6 expression appears to be one mechanism by which species-specific changes in skeletal structures evolve.
Like other ligands of the TGF-beta superfamily, GDF6 binds TGF-beta family receptors, which leads to recruitment and activation of SMAD transcription factors that regulate gene expression. GDF6 appears to promote differentiation of chondrogenic tissue through the receptor subunits BMPR1A, BMPR1B, BMPR2 and ACVR2A, activating the SMAD1-SMAD5-SMAD8 complex. NOG inhibits this chondrogenic regulation. GDF6 is also involved in inducing adipogenesis from mesenchymal stem cells, acting through BMPR1A, BMPR2 and ACVR2A, SMAD1-SMAD5-SMAD8 activation and MAPK14/p38.
The GDF6 gene encodes a preproprotein that is proteolytically processed to give the subunits of a disulfide-linked homodimer, which is secreted. The mouse and rat orthologs are both named Gdf6. The previous HGNC name was segmentation syndrome 1, and the BMP13 alias reflects its relationship to the bone morphogenetic proteins. Mutations in the gene are associated with Klippel-Feil syndrome, microphthalmia and Leber congenital amaurosis, which makes it a relevant target for developmental and ocular disease research.
GDF6 regulates apoptosis, dorsal-ventral patterning and retinotectal map formation in the retina, and its mutation is linked to Leber congenital amaurosis.
GDF6 is required for normal bone and joint formation and for establishing boundaries between skeletal elements during development.
GDF6 signals through BMP and activin receptor subunits and SMAD1-SMAD5-SMAD8 to direct chondrogenic and adipogenic differentiation of progenitor cells.
Mutations in GDF6 are associated with Klippel-Feil syndrome, microphthalmia and Leber congenital amaurosis, supporting studies of developmental disorders.
GDF6 is a secreted growth factor that controls proliferation and differentiation in the retina and during bone formation. It regulates retinal apoptosis, shapes dorsal-ventral retinal patterning, and is needed for normal bones and joints. It signals through receptor subunits and SMAD1-SMAD5-SMAD8 activation.
GDF6 is also called BMP13, KFS, KFS1 and SGM1, and was previously named segmentation syndrome 1. UniProt lists the protein as growth/differentiation factor 6. It belongs to the TGF-beta family, and the secreted mature form is a disulfide-linked homodimer.
Mouse and rat both have a Gdf6 ortholog, so rodent models are used to study it; check the datasheet of any product for its validated reactivity. In humans, GDF6 mutations are associated with Klippel-Feil syndrome, microphthalmia and Leber congenital amaurosis.
Other growth differentiation factors and TGF-beta superfamily ligands with products at Assay Genie.
Gene and protein annotations from HGNC, NCBI Gene and UniProt Q6KF10; product specifications from Assay Genie datasheets.