Hps4 - HPS4, biogenesis of lysosomal organelles complex 3 subunit 2

Enables small GTPase binding activity. Acts upstream of or within blood coagulation; melanocyte differentiation; and organelle organization. Located in cytoplasmic vesicle. Is expressed in midgut and midgut loop. Used to study Hermansky-Pudlak syndrome 4 and platelet storage pool deficiency. Human ortholog(s) of this gene implicated in Hermansky-Pudlak syndrome; Hermansky-Pudlak syndrome 4; and schizophrenia. Orthologous to human HPS4 (HPS4 biogenesis of lysosomal organelles complex 3 subunit 2). [provided by Alliance of Genome Resources, Apr 2022]