AP4E1
Chr 15ARADadaptor related protein complex 4 subunit epsilon 1
Also known as: CPSQ4, SPG51, STUT1
The protein is a large subunit of adaptor protein complex-4 that mediates vesicle formation and sorting of integral membrane proteins in secretory and endocytic pathways at the Golgi apparatus and trans-Golgi network. Mutations cause autosomal recessive spastic paraplegia 51 and autosomal dominant familial persistent stuttering through a predicted dominant-negative mechanism. The gene is highly intolerant to loss-of-function variants, indicating haploinsufficiency sensitivity.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
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
AP4E1 · 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
External Resources
Links to major genomics databases and tools