HPS6 explained

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]}

Further reading

• Stelzl U, Worm U, Lalowski M, etal . A human protein-protein interaction network: a resource for annotating the proteome. . Cell . 122 . 6 . 957–68 . 2005 . 16169070 . 10.1016/j.cell.2005.08.029 . 11858/00-001M-0000-0010-8592-0 . 8235923 . free .
• Gerhard DS, Wagner L, Feingold EA, etal . The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 528928 . 10.1101/gr.2596504 .
• Huizing M, Pederson B, Hess RA, etal . Clinical and cellular characterisation of Hermansky–Pudlak syndrome type 6 . J. Med. Genet. . 46 . 12 . 803–10 . 2009 . 19843503 . 10.1136/jmg.2008.065961 . 3500784.
• Ota T, Suzuki Y, Nishikawa T, etal . Complete sequencing and characterization of 21,243 full-length human cDNAs . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . free .
• Grupe A, Li Y, Rowland C, etal . A Scan of Chromosome 10 Identifies a Novel Locus Showing Strong Association with Late-Onset Alzheimer Disease . Am. J. Hum. Genet. . 78 . 1 . 78–88 . 2006 . 16385451 . 1380225 . 10.1086/498851 .
• Strausberg RL, Feingold EA, Grouse LH, etal . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2002 . 12477932 . 139241 . 10.1073/pnas.242603899 . 2002PNAS...9916899M . free .

External links

• GeneReviews/NCBI/NIH/UW entry on Hermansky–Pudlak syndrome

Notes and References

1. Zhang Q, Zhao B, Li W, Oiso N, Novak EK, Rusiniak ME, Gautam R, Chintala S, O'Brien EP, Zhang Y, Roe BA, Elliott RW, Eicher EM, Liang P, Kratz C, Legius E, Spritz RA, O'Sullivan TN, Copeland NG, Jenkins NA, Swank RT . Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky–Pudlak syndrome types 5 and 6 . Nat. Genet. . 33 . 2 . 145–53 . February 2003 . 12548288 . 10.1038/ng1087 . 23938527 .
2. Web site: Entrez Gene: HPS6 Hermansky–Pudlak syndrome 6 .
3. Di Pietro SM, Falcón-Pérez JM, Dell'Angelica EC . Characterization of BLOC-2, a complex containing the Hermansky–Pudlak syndrome proteins HPS3, HPS5 and HPS6 . Traffic . 5 . 4 . 276–83 . April 2004 . 15030569 . 10.1111/j.1600-0854.2004.0171.x . 20584286 . free .
4. Wei ML . Hermansky–Pudlak syndrome: a disease of protein trafficking and organelle function . Pigment Cell Res. . 19 . 1 . 19–42 . February 2006 . 16420244 . 10.1111/j.1600-0749.2005.00289.x . free .