AIRIM
Chr 1AFG2 interacting ribosome maturation factor
Also known as: C1orf109
The protein is part of the 55LCC ATPase complex that maintains DNA replication fork progression and genome stability, and also facilitates cytoplasmic maturation of ribosomal subunits. Mutations in AIRIM cause autosomal recessive developmental delay with seizures and microcephaly, typically presenting in early infancy. The gene shows minimal constraint against loss-of-function variants (pLI <0.001), consistent with the recessive inheritance pattern observed clinically.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
AIRIM · 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 →No open access results found
External Resources
Links to major genomics databases and tools