Aliases for HPS5 Gene
External Ids for HPS5 Gene
Previous GeneCards Identifiers for HPS5 Gene
This 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 6 protein and may interact with the cytoplasmic domain of integrin, alpha-3. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 5. Multiple transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for HPS5 Gene
HPS5 (HPS5, Biogenesis Of Lysosomal Organelles Complex 2 Subunit 2) is a Protein Coding gene. Diseases associated with HPS5 include Hermansky-Pudlak Syndrome 5 and Nephronophthisis 19. An important paralog of this gene is TECPR2.
UniProtKB/Swiss-Prot for HPS5 Gene
May regulate the synthesis and function of lysosomes and of highly specialized organelles, such as melanosomes and platelet dense granules. Regulates intracellular vesicular trafficking in fibroblasts. May be involved in the regulation of general functions of integrins.