Literature associating WDR83 and cytochrome-c oxidase deficiency disease
WDR83 [ENSP00000402653]
WD repeat domain-containing protein 83; Molecular scaffold protein for various multimeric protein complexes. Acts as a module in the assembly of a multicomponent scaffold for the ERK pathway, linking ERK responses to specific agonists. At low concentrations it enhances ERK activation, whereas high concentrations lead to the inhibition of ERK activation. Also involved in response to hypoxia by acting as a negative regulator of HIF1A/HIF-1-alpha via its interaction with EGLN3/PHD3. May promote degradation of HIF1A. May act by recruiting signaling complexes to a specific upstream activator (By similarity). May also be involved in pre-mRNA splicing; Belongs to the WD repeat MORG1 family.
Synonyms: WDR83, WDR83p, hWDR83, F8VSE4, G3V221 ...