| HPS3, SUTAL, BLOC2S1, biogenesis of lysosomal organelles complex 2 subunit 1|
MGI: 2153839 HomoloGene: 13019 GeneCards: HPS3
Hermansky-Pudlak syndrome 3 protein is a protein that in humans is encoded by the HPS3 gene.
This gene encodes a protein containing a potential clathrin-binding motif, consensus dileucine signals, and tyrosine-based sorting signals for targeting to vesicles of lysosomal lineage. The encoded protein may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 3. Alternate splice variants exist, but their full length sequence has not been determined.