DISEASES

Disease-gene associations mined from literature

Literature associating GON7 and Galloway-Mowat syndrome 1

GON7 [ENSP00000306320]

EKC/KEOPS complex subunit GON7; 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. GON7 likely plays a supporting role to the catalytic subunit OSGEP in the complex.

Synonyms:  GON7,  GON7p,  hGON7,  H0YJA8,  Q9BXV9 ...

Linkouts:  STRING  Pharos  UniProt