- HPS5
Hermansky-Pudlak syndrome 5, also known as HPS5, is a human
gene .cite web | title = Entrez Gene: HPS5 Hermansky-Pudlak syndrome 5| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=11234| accessdate = ]PBB_Summary
section_title =
summary_text = This gene encodes a protein that may play a role inorganelle biogenesis associated withmelanosome s, platelet dense granules, andlysosome s. 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.cite web | title = Entrez Gene: HPS5 Hermansky-Pudlak syndrome 5| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=11234| accessdate = ]References
Further reading
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citations =
*cite journal | author=Nakajima D, Okazaki N, Yamakawa H, "et al." |title=Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. |journal=DNA Res. |volume=9 |issue= 3 |pages= 99–106 |year= 2003 |pmid= 12168954 |doi=
*cite journal | author=Wixler V, Laplantine E, Geerts D, "et al." |title=Identification of novel interaction partners for the conserved membrane proximal region of alpha-integrin cytoplasmic domains. |journal=FEBS Lett. |volume=445 |issue= 2-3 |pages= 351–5 |year= 1999 |pmid= 10094488 |doi=
*cite journal | author=Nagase T, Ishikawa K, Suyama M, "et al." |title=Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. |journal=DNA Res. |volume=6 |issue= 1 |pages= 63–70 |year= 1999 |pmid= 10231032 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |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= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Zhang Q, Zhao B, Li W, "et al." |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 |year= 2003 |pmid= 12548288 |doi= 10.1038/ng1087
*cite journal | author=Ota T, Suzuki Y, Nishikawa T, "et al." |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
*cite journal | author=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 |year= 2004 |pmid= 15030569 |doi= 10.1111/j.1600-0854.2004.0171.x
*cite journal | author=Huizing M, Hess R, Dorward H, "et al." |title=Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5. |journal=Traffic |volume=5 |issue= 9 |pages= 711–22 |year= 2005 |pmid= 15296495 |doi= 10.1111/j.1600-0854.2004.00208.x
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |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 |doi= 10.1101/gr.2596504
*cite journal | author=Helip-Wooley A, Westbroek W, Dorward HM, "et al." |title=Improper trafficking of melanocyte-specific proteins in Hermansky-Pudlak syndrome type-5. |journal=J. Invest. Dermatol. |volume=127 |issue= 6 |pages= 1471–8 |year= 2007 |pmid= 17301833 |doi= 10.1038/sj.jid.5700737
*cite journal | author=Huizing M, Parkes JM, Helip-Wooley A, "et al." |title=Platelet alpha granules in BLOC-2 and BLOC-3 subtypes of Hermansky-Pudlak syndrome. |journal=Platelets |volume=18 |issue= 2 |pages= 150–7 |year= 2007 |pmid= 17365864 |doi= 10.1080/13576500600936039PBB_Controls
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