- HPS3
Hermansky-Pudlak syndrome 3, also known as HPS3, is a human
gene .cite web | title = Entrez Gene: HPS3 Hermansky-Pudlak syndrome 3| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=84343| accessdate = ]PBB_Summary
section_title =
summary_text = This gene encodes a protein containing a potential clathrin-binding motif, consensus dileucine signals, and tyrosine-based sorting signals for targeting to vesicles of lysosomal lineage. The encoded protein may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 3. Alternate splice variants exist, but their full length sequence has not been determined.cite web | title = Entrez Gene: HPS3 Hermansky-Pudlak syndrome 3| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=84343| accessdate = ]References
Further reading
PBB_Further_reading
citations =
*cite journal | author=Huizing M, Gahl WA |title=Disorders of vesicles of lysosomal lineage: the Hermansky-Pudlak syndromes. |journal=Curr. Mol. Med. |volume=2 |issue= 5 |pages= 451–67 |year= 2003 |pmid= 12125811 |doi=
*cite journal | author=Oh J, Ho L, Ala-Mello S, "et al." |title=Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity. |journal=Am. J. Hum. Genet. |volume=62 |issue= 3 |pages= 593–8 |year= 1998 |pmid= 9497254 |doi=
*cite journal | author=Anikster Y, Huizing M, White J, "et al." |title=Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico. |journal=Nat. Genet. |volume=28 |issue= 4 |pages= 376–80 |year= 2001 |pmid= 11455388 |doi= 10.1038/ng576
*cite journal | author=Huizing M, Anikster Y, Fitzpatrick DL, "et al." |title=Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency. |journal=Am. J. Hum. Genet. |volume=69 |issue= 5 |pages= 1022–32 |year= 2001 |pmid= 11590544 |doi=
*cite journal | author=Suzuki T, Li W, Zhang Q, "et al." |title=The gene mutated in cocoa mice, carrying a defect of organelle biogenesis, is a homologue of the human Hermansky-Pudlak syndrome-3 gene. |journal=Genomics |volume=78 |issue= 1-2 |pages= 30–7 |year= 2002 |pmid= 11707070 |doi= 10.1006/geno.2001.6644
*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=Nazarian R, Falcón-Pérez JM, Dell'Angelica EC |title=Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=100 |issue= 15 |pages= 8770–5 |year= 2003 |pmid= 12847290 |doi= 10.1073/pnas.1532040100
*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=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=Boissy RE, Richmond B, Huizing M, "et al." |title=Melanocyte-specific proteins are aberrantly trafficked in melanocytes of Hermansky-Pudlak syndrome-type 3. |journal=Am. J. Pathol. |volume=166 |issue= 1 |pages= 231–40 |year= 2005 |pmid= 15632015 |doi=
*cite journal | author=Helip-Wooley A, Westbroek W, Dorward H, "et al." |title=Association of the Hermansky-Pudlak syndrome type-3 protein with clathrin. |journal=BMC Cell Biol. |volume=6 |issue= |pages= 33 |year= 2006 |pmid= 16159387 |doi= 10.1186/1471-2121-6-33
*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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