HPS1 biogenesis of lysosomal organelles complex 3 subunit 1
Synonyms
im:7143944
zgc:123240
Biotype
protein coding gene
Automated Description
Predicted to contribute to guanyl-nucleotide exchange factor activity. Predicted to be involved in melanosome assembly. Predicted to act upstream of or within vesicle-mediated transport. Predicted to be part of BLOC-3 complex. Is expressed in optic vesicle; pancreas; pancreatic bud; retina; and retinal pigmented epithelium. Used to study proteinuria. Human ortholog(s) of this gene implicated in Hermansky-Pudlak syndrome 1 and oculocutaneous albinism. Orthologous to human HPS1 (HPS1 biogenesis of lysosomal organelles complex 3 subunit 1).