Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The AP1S3 gene encodes an adaptor protein that is involved in vesicular transport from Golgi apparatus to endosomes, which may contribute to antigen presentation. Mutations are associated with pustular psoriasis 15.
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Research | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| 1. |
Setta-Kaffetzi N et. al. (2014) AP1S3 mutations are associated with pustular psoriasis and impaired Toll-like receptor 3 trafficking. 
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| 2. |
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