HPS1 - Hermansky-Pudlak Syndrome 1 or Biogenesis of Lysosomal Organelles Complex 3 Subunit 1
This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Component of the BLOC-3 complex, a complex that plays an important role in the control of melanin production and melanosome biogenesis and promotes the membrane localization of RAB32 and RAB38
Mouse
pale ear (three mutations)
Inheritence: recessive.
agouti wild type and pale ear; nonagouti wild type and pale ear










