Disease-gene associations mined from literature

Literature associating WDR34 and Saldino-Noonan syndrome

WDR34 [ENSP00000361800]

WD repeat-containing protein 34; Critical for ciliary functions, essential to normal development and survival, most probably as a previously unrecognized component of the mammalian dynein-motor-based intraflagellar transport (IFT) machinery. Acts as a negative regulator of the Toll-like and IL-1R receptor signaling pathways. Inhibits the MAP3K7-induced NF-kappa-B activation pathway. Inhibits MAP3K7 phosphorylation at 'Thr-184' and 'Thr-187' upon Il-1 beta stimulation; WD repeat domain containing

Synonyms:  WDR34,  WDR34p,  hWDR34,  A2A3F8,  A2A3F9 ...

Linkouts:  STRING  Pharos  UniProt  OMIM