AIMP1

Chr 4AR

aminoacyl tRNA synthetase complex interacting multifunctional protein 1

Also known as: EMAP2, EMAPII, HLD3, SCYE1, p43

NCBI Gene: 9255 ENSG00000164022 UniProt: Q12904 OMIM: 603605

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.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene is a cytokine that is specifically induced by apoptosis, and it is involved in the control of angiogenesis, inflammation, and wound healing. The release of this cytokine renders the tumor-associated vasculature sensitive to tumor necrosis factor. The precursor protein is identical to the p43 subunit, which is associated with the multi-tRNA synthetase complex, and it modulates aminoacylation activity of tRNA synthetase in normal cells. This protein is also involved in the stimulation of inflammatory responses after proteolytic cleavage in tumor cells. Multiple transcript variants encoding different isoforms have been found for this gene. A pseudogene has been identified on chromosome 20. [provided by RefSeq, Dec 2008]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Leukodystrophy, hypomyelinating, 3MIM #260600

Clinical highlights

Gene-disease validity (ClinGen)

hypomyelinating leukodystrophy 3 · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.22

LOEUF

LOF

Mechanism· G2P