Species Human Entrez 79803 | Human Mouse Ensembl ENSG00000166189 | |
Aliases HPS6, BLOC2S3, biogenesis of lysosomal organelles complex 2 subunit 3 External IDs MGI: 2181763 HomoloGene: 11691 GeneCards: HPS6 | ||
Hermansky-Pudlak syndrome 6 (HPS6) also known as ruby-eye protein homolog (Ru) is a protein that in humans is encoded by the HPS6 gene.
Contents
Function
This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. HPS6 along with HPS3 and HPS5 form a stable protein complex named Biogenesis of Lysosome-related Organelles Complex-2 (BLOC-2).
Clinical significance
Mutations in this gene are associated with Hermansky–Pudlak syndrome type 6 characterized by albinism and prolonged bleeding.
References
HPS6 Wikipedia(Text) CC BY-SA