Disease-gene associations mined from literature

Literature associating LAGE3 and cerebellar hypoplasia

LAGE3 [ENSP00000349923]

EKC/KEOPS complex subunit LAGE3; Component of the EKC/KEOPS complex that is required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs that read codons beginning with adenine. The complex is probably involved in the transfer of the threonylcarbamoyl moiety of threonylcarbamoyl-AMP (TC-AMP) to the N6 group of A37. LAGE3 functions as a dimerization module for the complex (By similarity).

Synonyms:  LAGE3,  LAGE3p,  hLAGE3,  B0S8I7,  Q14657 ...

Linkouts:  STRING  Pharos  UniProt  OMIM