Disease-gene associations mined from literature

Literature associating OSGEP and cerebellar hypoplasia

OSGEP [ENSP00000206542]

t(6)A37 threonylcarbamoyladenosine biosynthesis protein OSGEP; 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. OSGEP likely plays a direct catalytic role in this reaction, but requires other protein(s) of the complex to fulfill this activity; Belongs to the KAE1 / TsaD family.

Synonyms:  OSGEP,  G3V249,  G3V282,  G3V425,  G3V445 ...

Linkouts:  STRING  Pharos  UniProt  OMIM