EPB41L3

Chr 18

erythrocyte membrane protein band 4.1 like 3

Also known as: 4.1B, DAL-1, DAL1

NCBI Gene: 23136 ENSG00000082397 UniProt: Q9Y2J2

This protein functions as a structural constituent of the cytoskeleton and maintains paranodal junctions in the nervous system. Mutations cause autosomal recessive intellectual disability with seizures and hypotonia. The gene is highly constrained against loss-of-function variants (LOEUF 0.477), consistent with its essential role in nervous system development.

ResearchSummary from RefSeq, UniProt

Predicted to enable cytoskeletal protein-membrane anchor activity. Predicted to be a structural constituent of cytoskeleton. Predicted to be involved in several processes, including nervous system development; paranodal junction maintenance; and protein localization to axon. Located in several cellular components, including cell-cell junction; ciliary basal body; and cytosol. Implicated in esophagus squamous cell carcinoma. Biomarker of meningioma. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.48

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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