Disease-gene associations mined from literature

Literature associating C21orf59 and early infantile epileptic encephalopathy 53

C21orf59 [ENSP00000290155]

Chromosome 21 open reading frame 59; Plays a role in motile cilium function, possibly by acting on outer dynein arm assembly. Seems to be important for initiation rather than maintenance of cilium motility (By similarity). Required for correct positioning of the cilium at the apical cell surface, suggesting an additional role in the planar cell polarity (PCP) pathway (By similarity). May suppress canonical Wnt signaling activity (By similarity).

Synonyms:  C21orf59,  C21ORF59,  C9J818,  C9JX57,  D3DSE6 ...

Linkouts:  STRING  Pharos  UniProt