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.
Function
This
intron
An intron is any nucleotide sequence within a gene that is not expressed or operative in the final RNA product. The word ''intron'' is derived from the term ''intragenic region'', i.e. a region inside a gene."The notion of the cistron .e., gene. ...
less gene encodes a protein that may play a role in organelle
biogenesis associated with
melanosomes, platelet dense granules, and
lysosomes.
HPS6 along with
HPS3 and
HPS5 form a stable protein complex named Biogenesis of Lysosome-related Organelles Complex-2 (BLOC-2).
Clinical significance
Mutations in this gene are associated with
Hermansky–Pudlak syndrome type 6 characterized by albinism and prolonged bleeding.
References
Further reading
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External links
GeneReviews/NCBI/NIH/UW entry on Hermansky–Pudlak syndrome
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