DISEASES

Disease-gene associations mined from literature

Literature associating EEF1A1 and early infantile epileptic encephalopathy 33

EEF1A1 [ENSP00000339063]

Eukaryotic translation elongation factor 1 alpha 1; This protein promotes the GTP-dependent binding of aminoacyl-tRNA to the A-site of ribosomes during protein biosynthesis. With PARP1 and TXK, forms a complex that acts as a T helper 1 (Th1) cell-specific transcription factor and binds the promoter of IFN-gamma to directly regulate its transcription, and is thus involved importantly in Th1 cytokine production; Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. EF-Tu/EF-1A subfamily.

Synonyms:  EEF1A1,  EEF1A1p,  hEEF1A1,  LOC102724204,  A6PW80 ...

Linkouts:  STRING  Pharos  UniProt