AIMP1
Chr 4ARaminoacyl tRNA synthetase complex interacting multifunctional protein 1
Also known as: EMAP2, EMAPII, HLD3, SCYE1, p43
The protein functions as the p43 subunit of the multi-tRNA synthetase complex, modulating aminoacylation activity of tRNA synthetase, and also acts as a cytokine involved in controlling angiogenesis, inflammation, and wound healing when released from cells. Mutations cause autosomal recessive hypomyelinating leukodystrophy type 3. The pathogenic mechanism likely involves disruption of protein synthesis through impaired tRNA aminoacylation.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
AIMP1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools