HPS5

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Lua error in Module:Infobox_gene at line 33: attempt to index field 'wikibase' (a nil value). Hermansky-Pudlak syndrome 5 protein is a protein that in humans is encoded by the HPS5 gene.[1][2][3]

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.[3]

References

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  2. Lua error in package.lua at line 80: module 'strict' not found.
  3. 3.0 3.1 Lua error in package.lua at line 80: module 'strict' not found.

External links

Further reading

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