ERI1
Chr 8ARexoribonuclease 1
Also known as: 3'HEXO, HEXO, HXAL, SEMDGC, SEMDGS, THEX1
The protein is a 3'-5' exonuclease that degrades histone mRNAs after DNA replication and processes 5.8S ribosomal RNA, playing a key role in chondrogenesis. Biallelic mutations cause Hoxha-Aliu syndrome and spondyloepimetaphyseal dysplasia (Guo-Campeau type), both skeletal dysplasias with autosomal recessive inheritance. The gene shows tolerance to loss-of-function variants (pLI near 0), consistent with the recessive inheritance pattern.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
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
ERI1 · 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