Hermansky–Pudlak syndrome (HPS)-associated genes, loci, proteins and complexes
HPS type | Gene# | Locus | Protein | Complex |
HPS-1 | HPS1 | 10q23.1 | HPS1 | BLOC-3 |
HPS-2 | AP3B1 | 5q14.1 | AP-3 complex β3A subunit | AP-3 |
HPS-3 | HPS3 | 3q24 | HPS3 | BLOC-2 |
HPS-4 | HPS4 | 22q11.2–q12.2 | HPS4 | BLOC-3 |
HPS-5 | HPS5 | 11p15–p13 | HPS5 | BLOC-2 |
HPS-6 | HPS6 | 10q24.3 | HPS6 | BLOC-2 |
HPS-7 | DTNBP1 | 6p22.3 | Dysbindin | BLOC-1 |
HPS-8 | BLOC1S3 | 19q13 | BLOC-1 subunit 3 | BLOC-1 |
HPS-9 | PLDN | 15q15 | Pallidin | BLOC-1 |
HPS-10 | AP3D1 | 19p13.3 | AP-3 complex δ1 subunit | AP-3 |
AP: adaptor protein; BLOC: biogenesis of lysosome-related organelles complex. #: see www.genecards.org for aliases.