Literature associating ATE1 and Johanson-Blizzard syndrome
Arginine-tRNA--protein transferase 1; Involved in the post-translational conjugation of arginine to the N-terminal aspartate or glutamate of a protein. This arginylation is required for degradation of the protein via the ubiquitin pathway. Does not arginylate cysteine residues (By similarity).
Synonyms: ATE1, ATE1p, hATE1, ATE1-001, ATE1-002 ...