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AP3B1

MIM.603401 5q14.1

Wednesday 29 October 2003

The AP-3 complex is a ubiquitously expressed adaptor-like complex that is composed of 4 distinct subunits and is likely involved in protein sorting in exocytic/endocytic pathways.

Pathology

- AP3B1 mutations in the Hermansky-Pudlak syndrome (MIM.203300)

References

- Feng L, Seymour AB, Jiang S, et al. The ß3A subunit gene (Ap3b1 ) of the AP-3 adaptor complex is altered in the mouse hypopigmentation mutant pearl, a model for Hermansky-Pudlak syndrome and night blindness. Hum Mol Genet 1999;8:323-3303