Entrez 11234 | Ensembl ENSG00000110756 | |
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Aliases HPS5, AIBP63, BLOC2S2, biogenesis of lysosomal organelles complex 2 subunit 2 External IDs MGI: 2180307 HomoloGene: 35333 GeneCards: HPS5 |
Hermansky-Pudlak syndrome 5 protein is a protein that in humans is encoded by the 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.
References
HPS5 Wikipedia(Text) CC BY-SA