Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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AP-1 complex subunit sigma-3

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.

Genetests:

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

Related Diseases:

References:

1.

Setta-Kaffetzi N et. al. (2014) AP1S3 mutations are associated with pustular psoriasis and impaired Toll-like receptor 3 trafficking.

external link
2.
Update: Aug. 14, 2020
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