Jul 10, 2025
HPS4 - Hermansky-Pudlak Syndrome 4 or Biogenesis of Lysosomal Organelles Complex 3 Subunit 2
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 proteins RAB32 and RAB38.
Mouse
light ear
Inheritence: recessive.
light ear and pale ear heterozygotes (showing wild type phenotype) and homozygotes