HPS6
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Hermansky-Pudlak syndrome 6 (HPS6) also known as ruby-eye protein homolog (Ru) is a protein that in humans is encoded by the HPS6 gene.[1]
Function
This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes.[2] HPS6 along with HPS3 and HPS5 form a stable protein complex named Biogenesis of Lysosome-related Organelles Complex-2 (BLOC-2).[3]
Clinical significance
Mutations in this gene are associated with Hermansky-Pudlak syndrome type 6 characterized by albinism and prolonged bleeding.[1][4]
References
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<references />, or <references group="..." />Further reading
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External links
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