RMI1
Chr 9RecQ mediated genome instability 1
Also known as: BLAP75, C9orf76, FAAP75
The RMI1 protein is an essential component of the RMI complex that processes homologous recombination intermediates and promotes DNA double-strand break repair by stimulating topoisomerase III activity and stabilizing the BLM helicase complex. Mutations cause autosomal recessive Bloom syndrome, characterized by severe growth retardation, sun-sensitive skin changes, immunodeficiency, and markedly increased cancer predisposition with onset in infancy. RMI1 is highly intolerant to loss-of-function variants, reflecting its critical role in maintaining genomic stability.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
RMI1 · 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