NECAP1
Chr 12ARNECAP endocytosis associated 1
The encoded protein localizes to clathrin-coated vesicles and binds adapter protein complexes to facilitate endocytosis. Loss-of-function mutations cause developmental and epileptic encephalopathy 21, inherited in an autosomal recessive pattern. The pathogenic mechanism involves disrupted endocytosis due to impaired clathrin-coated vesicle function.
Moderate evidence — consider for supplementary testing
Some data sources returned errors (1)
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
NECAP1 · 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