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FLASH GENE
Symbol GDF6 contributors: mct - updated : 18-04-2023
HGNC name growth differentiation factor 6
HGNC id 4221
ASSOCIATED DISORDERS
corresponding disease(s) KFS1 , LCA17 , MCOP4 , SYNS4 , DFNB118
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein 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
    ANIMAL & CELL MODELS
  • 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