EPB41L1
Chr 20ADerythrocyte membrane protein band 4.1 like 1
Also known as: 4.1N, MRD11
The encoded protein stabilizes dopamine receptors at neuronal membranes and maintains neuronal membrane stability through interactions with the cytoskeleton and membrane channels. Mutations cause autosomal recessive mental retardation with neuropsychiatric features including intellectual disability, autism spectrum disorder, and behavioral abnormalities. This gene is highly constrained against loss-of-function variants, indicating that complete protein loss is likely incompatible with normal development.
Limited evidence — not for standalone diagnostic reporting
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
EPB41L1 · 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