DISEASES

Disease-gene associations mined from literature

Literature associating ELP5 and Riley-Day syndrome

ELP5 [ENSP00000379869]

Elongator complex protein 5; Component of the RNA polymerase II elongator complex, a multiprotein complex associated with the RNA polymerase II (Pol II) holoenzyme, and which is involved in transcriptional elongation . The elongator complex catalyzes formation of carboxymethyluridine in the wobble base at position 34 in tRNAs . Involved in cell migration (By similarity). May be involved in TP53-mediated transcriptional regulation .

Synonyms:  ELP5,  ELP5p,  hELP5,  I3L1A8,  I3L1Q3 ...

Linkouts:  STRING  Pharos  UniProt