DISEASES

Disease-gene associations mined from literature

Literature on OSGEPL1

OSGEPL1 [ENSP00000264151]

Probable tRNA N6-adenosine threonylcarbamoyltransferase, mitochondrial; Required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in mitochondrial tRNAs that read codons beginning with adenine. Probably involved in the transfer of the threonylcarbamoyl moiety of threonylcarbamoyl-AMP (TC-AMP) to the N6 group of A37. Involved in mitochondrial genome maintenance.

Synonyms:  OSGEPL1,  OSGEPL1p,  hOSGEPL1,  E5RGZ1,  E5RIL9 ...

Linkouts:  STRING  Pharos  UniProt