AP1S2
Chr XXLRadaptor related protein complex 1 subunit sigma 2
Also known as: DC22, MRX59, MRXS21, MRXS5, MRXSF, PGS, SIGMA1B
The protein serves as the small subunit of adaptor protein complex 1, which mediates clathrin recruitment to membranes and recognizes sorting signals in transmembrane cargo molecules at the Golgi complex and endosomes. Mutations cause Pettigrew syndrome, an X-linked recessive disorder. The gene is highly constrained against loss-of-function variants (pLI 0.87, LOEUF 0.45).
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
AP1S2 · 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