Hps5 - HPS5, biogenesis of lysosomal organelles complex 2 subunit 2

Acts upstream of or within blood coagulation; organelle organization; and pigmentation. Predicted to be located in cytosol. Predicted to be part of BLOC-2 complex. Used to study Hermansky-Pudlak syndrome 5 and platelet storage pool deficiency. Human ortholog(s) of this gene implicated in Hermansky-Pudlak syndrome and Hermansky-Pudlak syndrome 5. Orthologous to human HPS5 (HPS5 biogenesis of lysosomal organelles complex 2 subunit 2). [provided by Alliance of Genome Resources, Apr 2022]