HPS6
{{Short description|Protein found in humans}}
{{Infobox_gene}}
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.{{cite journal |vauthors=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 | title = Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky–Pudlak syndrome types 5 and 6 | journal = Nat. Genet. | volume = 33 | issue = 2 | pages = 145–53 |date=February 2003 | pmid = 12548288 | doi = 10.1038/ng1087 | s2cid = 23938527 }}
Function
This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes.{{cite web | title = Entrez Gene: HPS6 Hermansky–Pudlak syndrome 6 | url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=79803 }} HPS6 along with HPS3 and HPS5 form a stable protein complex named Biogenesis of Lysosome-related Organelles Complex-2 (BLOC-2).{{cite journal |vauthors=Di Pietro SM, Falcón-Pérez JM, Dell'Angelica EC | title = Characterization of BLOC-2, a complex containing the Hermansky–Pudlak syndrome proteins HPS3, HPS5 and HPS6 | journal = Traffic | volume = 5 | issue = 4 | pages = 276–83 |date=April 2004 | pmid = 15030569 | doi = 10.1111/j.1600-0854.2004.0171.x | s2cid = 20584286 | doi-access = free }}
Clinical significance
Mutations in this gene are associated with Hermansky–Pudlak syndrome type 6 characterized by albinism and prolonged bleeding.{{cite journal | author = Wei ML | title = Hermansky–Pudlak syndrome: a disease of protein trafficking and organelle function | journal = Pigment Cell Res. | volume = 19 | issue = 1 | pages = 19–42 |date=February 2006 | pmid = 16420244 | doi = 10.1111/j.1600-0749.2005.00289.x | doi-access = free }}
References
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Further reading
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- {{cite journal |vauthors=Stelzl U, Worm U, Lalowski M, etal |title=A human protein-protein interaction network: a resource for annotating the proteome. |journal=Cell |volume=122 |issue= 6 |pages= 957–68 |year= 2005 |pmid= 16169070 |doi= 10.1016/j.cell.2005.08.029 |hdl= 11858/00-001M-0000-0010-8592-0 |s2cid=8235923 |hdl-access= free }}
- {{cite journal |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |pmc=528928 |doi= 10.1101/gr.2596504 }}
- {{cite journal |vauthors=Huizing M, Pederson B, Hess RA, etal |title=Clinical and cellular characterisation of Hermansky–Pudlak syndrome type 6 |journal=J. Med. Genet. |volume=46 |issue= 12 |pages= 803–10 |year= 2009 |pmid= 19843503 |doi= 10.1136/jmg.2008.065961 |pmc=3500784}}
- {{cite journal |vauthors=Ota T, Suzuki Y, Nishikawa T, etal |title=Complete sequencing and characterization of 21,243 full-length human cDNAs |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |doi-access= free }}
- {{cite journal |vauthors=Grupe A, Li Y, Rowland C, etal |title=A Scan of Chromosome 10 Identifies a Novel Locus Showing Strong Association with Late-Onset Alzheimer Disease |journal=Am. J. Hum. Genet. |volume=78 |issue= 1 |pages= 78–88 |year= 2006 |pmid= 16385451 |pmc=1380225 |doi= 10.1086/498851 }}
- {{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2002 |pmid= 12477932 |pmc=139241 |doi= 10.1073/pnas.242603899 |bibcode=2002PNAS...9916899M |doi-access=free }}
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External links
- [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=hps GeneReviews/NCBI/NIH/UW entry on Hermansky–Pudlak syndrome]
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