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FLASH GENE
Symbol TRAF6 contributors: mct/pgu - updated : 08-01-2018
HGNC name TNF receptor-associated factor 6
HGNC id 12036
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein 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
ANIMAL & CELL MODELS
  • 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