AP4B1
Chr 1ARadaptor related protein complex 4 subunit beta 1
Also known as: BETA-4, CPSQ5, SPG47
The protein encoded by this gene is a subunit of the heterotetrameric adapter-like complex 4 that targets proteins from the trans-Golgi network to the endosomal-lysosomal system. Mutations cause spastic paraplegia 47 and cerebral palsy spastic quadriplegic type 5 through autosomal recessive inheritance. The pathogenic mechanism involves disrupted intracellular protein trafficking between the Golgi apparatus and lysosomal compartments.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
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
AP4B1 · 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