TABLE 1

Hermansky–Pudlak syndrome (HPS)-associated genes, loci, proteins and complexes

HPS typeGene#LocusProteinComplex
HPS-1HPS110q23.1HPS1BLOC-3
HPS-2AP3B15q14.1AP-3 complex β3A subunitAP-3
HPS-3HPS33q24HPS3BLOC-2
HPS-4HPS422q11.2–q12.2HPS4BLOC-3
HPS-5HPS511p15–p13HPS5BLOC-2
HPS-6HPS610q24.3HPS6BLOC-2
HPS-7DTNBP16p22.3DysbindinBLOC-1
HPS-8BLOC1S319q13BLOC-1 subunit 3BLOC-1
HPS-9PLDN15q15PallidinBLOC-1
HPS-10AP3D119p13.3AP-3 complex δ1 subunitAP-3

AP: adaptor protein; BLOC: biogenesis of lysosome-related organelles complex. #: see www.genecards.org for aliases.