Symbol
| TRAF6
| contributors: mct/pgu - updated : 08-01-2018
|
HGNC name
| TNF receptor-associated factor 6
|
HGNC id
| 12036
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
---|
constitutional
|  
|  
| --over
|  
|
in post-mortem brains from Huntington disease patients where it is found in the insoluble fraction | constitutional
|  
|  
|  
| loss of function
|
specific inhibition of TRAF6 improves satellite cell activation and skeletal muscle regeneration through upregulation of Notch signaling and reducing the inflammatory repertoire | tumoral
|  
|  
| --over
|  
|
in osteosarcoma tissues compared to normal bone tissue | tumoral
|  
|  
| --over
|  
|
in primary as well as metastatic melanoma tumors and melanoma cell lines | |
Susceptibility
|
to osteoporosis |
Variant & Polymorphism
other
| variant increasing the risk of osteoporosis |
|
|
Candidate gene
Marker
Therapy target
| | | |
| Traf6(-/-) mice display exencephaly and failure of neural tube closure | |
TRAF6-deficient T cells exhibit hyperactivation of the phosphatidylinositol 3-kinase (PI3K)-Akt pathway and become resistant to suppression by CD4+ CD25+ regulatory T-cells |