ERO1B
Chr 1endoplasmic reticulum oxidoreductase 1 beta
Also known as: ERO1LB, Ero1beta
This gene encodes an oxidoreductase that catalyzes disulfide bond formation in the endoplasmic reticulum by reoxidizing protein disulfide isomerase (PDI) and other disulfide isomerase family members, enabling proper protein folding. ERO1B is not constrained against loss-of-function mutations and currently has no established disease associations in humans. The protein may contribute to glucose homeostasis through its role in proinsulin folding in pancreatic cells.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ERO1B · 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