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.