HPS5

HPS5 biogenesis of lysosomal organelles complex 2 subunit 2

ENTREZID: 11234 | Type: NA | Map: 11p15.1

OMIM: 300335


Summary Entrez
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]