Literature associating OSGEP and renal tubular acidosis
OSGEP [ENSP00000206542]
Probable tRNA N6-adenosine threonylcarbamoyltransferase; 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. Rule:MF_03180, ECO:0000269|PubMed:28272532, ECO:0000269|PubMed:28805828, ECO:0000305|PubMed:22912744,; Belongs to the KAE1 / TsaD family.
Synonyms: OSGEP, G3V249, G3V445, Q9NPF4, G3V249p ...