Aliases for HPS6 Gene
External Ids for HPS6 Gene
Previous GeneCards Identifiers for HPS6 Gene
This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 5 protein. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 6. [provided by RefSeq, Jul 2008]
GeneCards Summary for HPS6 Gene
HPS6 (HPS6, Biogenesis Of Lysosomal Organelles Complex 2 Subunit 3) is a Protein Coding gene. Diseases associated with HPS6 include Hermansky-Pudlak Syndrome 6 and Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis. GO annotations related to this gene include Rab GTPase binding and GTP-dependent protein binding.
UniProtKB/Swiss-Prot for HPS6 Gene
May regulate the synthesis and function of lysosomes and of highly specialized organelles, such as melanosomes and platelet dense granules (PubMed:17041891). Acts as cargo adapter for the dynein-dynactin motor complex to mediate the transport of lysosomes from the cell periphery to the perinuclear region. Facilitates retrograde lysosomal trafficking by linking the motor complex to lysosomes, and perinuclear positioning of lysosomes is crucial for the delivery of endocytic cargos to lysosomes, for lysosome maturation and functioning (PubMed:25189619).