DISEASES

Disease-gene associations mined from literature

Literature associating AIMP2 and early infantile epileptic encephalopathy 29

AIMP2 [ENSP00000223029]

Aminoacyl tRNA synthetase complex-interacting multifunctional protein 2; Required for assembly and stability of the aminoacyl- tRNA synthase complex. Mediates ubiquitination and degradation of FUBP1, a transcriptional activator of MYC, leading to MYC down-regulation which is required for aveolar type II cell differentiation. Blocks MDM2-mediated ubiquitination and degradation of p53/TP53. Functions as a proapoptotic factor.

Synonyms:  AIMP2,  AIMP2p,  hAIMP2,  A0A024QZY1,  A8MU58 ...

Linkouts:  STRING  Pharos  UniProt  OMIM