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
In cell biology, an organelle is a specialized subunit, usually within a cell, that has a specific function. The name ''organelle'' comes from the idea that these structures are parts of cells, as organs are to the body, hence ''organelle,'' the ...
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
External links
GeneReviews/NCBI/NIH/UW entry on Hermansky–Pudlak syndrome
Further reading
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