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

About Hps4

Summary

Predicted to enable protein homodimerization activity and small GTPase binding activity. Predicted to contribute to guanyl-nucleotide exchange factor activity. Predicted to be involved in several processes, including melanosome assembly; positive regulation of protein targeting to mitochondrion; and protein stabilization. Predicted to act upstream of or within blood coagulation; melanocyte differentiation; and organelle organization. Predicted to be located in cytoplasmic vesicle; lysosome; and membrane. Predicted to be part of BLOC-3 complex. Predicted to be active in cytoplasmic vesicle and lysosomal membrane. 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]