| Gene Symbol |
GDF6
|
| Entrez Gene |
392255
|
| Alt Symbol |
BMP-13, BMP13, CDMP2, KFM, KFS, KFS1, KFSL, LCA17, MCOP4, MCOPCB6, SCDO4, SGM1
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
growth differentiation factor 6
|
| Other Description |
GDF-6|Klip-Feil malformation|Klippel-Feil malformation|Klippel-Feil syndrome|bone morphogenetic protein 13|growth/differentiation factor 16|growth/differentiation factor 6
|
| Swissprots |
Q6PI58 Q6KF10
|
| Accessions |
AGF34263 AGF34264 EAW91747 Q6KF10 AJ537424 CAD60934 BC043222 AAH43222 BC127947 AAI27948 BC127948 AAI27949 BC156445 AAI56446 XM_011517030 XP_011515332 NM_001001557 NP_001001557
|
| 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, and axial skeleton. Plays a key role in establishing boundaries between skeletal elements during development. May signal through the growth factor receptors subunits BMPR1A, BMPR1B, BMPR2 and ACVR2A. {ECO:0000269|PubMed:23307924}.
|
| Subcellular Location |
Secreted {ECO:0000269|PubMed:23307924}.
|
| Top Pathways |
TGF-beta signaling pathway, Hippo signaling pathway
|