| Symbol
| GDF6
| contributors: mct - updated : 18-04-2023
|
| HGNC name
| growth differentiation factor 6
|
| HGNC id
| 4221
|
| Other morbid association(s)
|
| Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
|---|
| constitutional
|
| deletion
|
|
| |
genomic deletion 8q21.2q22.1 in a patient with chorioretinal coloboma point to a key role of GDF6 in ocular development | | tumoral
|
|
| --over
|
|
in melanomas correlated with poor survival  | | constitutional
|
|
| --over
|
| |
in hepatic fibrosis wich is a profibrogenic factor | |
| Susceptibility
|
to Leri pleonosteosis, a congenital rheumatic disease |
| Variant & Polymorphism
other
| microduplication at 8q22.1 encompassing GDF6 and SDC2 increasing the risk of Leri pleonosteosis |
| 
|
| Candidate gene
| for ocular developmental anomalies |
|
potential as a new fibrosis marker and antifibrogenic therapeutic target in patients with chronic liver disease |
Marker
Therapy target
|
| | |
|
| zebrafish, mice and xenopus models of gdf6 inhibition with ocular developmental phenotype | |
in mice, loss of Gdf6 results in fusion of the coronal suture, the intramembranous joint that separates the frontal and parietal bones |