HPS4

Hermansky-Pudlak syndrome 4, also known as HPS4, is a human gene.cite web | title = Entrez Gene: HPS4 Hermansky-Pudlak syndrome 4| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=89781| accessdate = ]

PBB_Summary
section_title =
summary_text = Hermansky-Pudlak syndrome is a disorder of organelle biogenesis in which oculocutaneous albinism, bleeding, and pulmonary fibrosis result from defects of melanosomes, platelet dense granules, and lysosomes. Mutations in this gene as well as several others can cause this syndrome. The protein encoded by this gene appears to be important in organelle biogenesis and is similar to the mouse 'light ear' protein. Five transcript variants encoding different isoforms have been found for this gene. In addition, transcript variants utilizing alternative polyadenylation signals exist.cite web | title = Entrez Gene: HPS4 Hermansky-Pudlak syndrome 4| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=89781| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery. |journal=Genome Res. |volume=6 |issue= 9 |pages= 791–806 |year= 1997 |pmid= 8889548 |doi=
*cite journal | author=Dunham I, Shimizu N, Roe BA, "et al." |title=The DNA sequence of human chromosome 22. |journal=Nature |volume=402 |issue= 6761 |pages= 489–95 |year= 1999 |pmid= 10591208 |doi= 10.1038/990031
*cite journal | author=Hirosawa M, Nagase T, Murahashi Y, "et al." |title=Identification of novel transcribed sequences on human chromosome 22 by expressed sequence tag mapping. |journal=DNA Res. |volume=8 |issue= 1 |pages= 1–9 |year= 2001 |pmid= 11258795 |doi=
*cite journal | author=Suzuki T, Li W, Zhang Q, "et al." |title=Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene. |journal=Nat. Genet. |volume=30 |issue= 3 |pages= 321–4 |year= 2002 |pmid= 11836498 |doi= 10.1038/ng835
*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=Collins JE, Goward ME, Cole CG, "et al." |title=Reevaluating human gene annotation: a second-generation analysis of chromosome 22. |journal=Genome Res. |volume=13 |issue= 1 |pages= 27–36 |year= 2003 |pmid= 12529303 |doi= 10.1101/gr.695703
*cite journal | author=Chiang PW, Oiso N, Gautam R, "et al." |title=The Hermansky-Pudlak syndrome 1 (HPS1) and HPS4 proteins are components of two complexes, BLOC-3 and BLOC-4, involved in the biogenesis of lysosome-related organelles. |journal=J. Biol. Chem. |volume=278 |issue= 22 |pages= 20332–7 |year= 2003 |pmid= 12663659 |doi= 10.1074/jbc.M300090200
*cite journal | author=Anderson PD, Huizing M, Claassen DA, "et al." |title=Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics. |journal=Hum. Genet. |volume=113 |issue= 1 |pages= 10–7 |year= 2003 |pmid= 12664304 |doi= 10.1007/s00439-003-0933-5
*cite journal | author=Martina JA, Moriyama K, Bonifacino JS |title=BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4. |journal=J. Biol. Chem. |volume=278 |issue= 31 |pages= 29376–84 |year= 2003 |pmid= 12756248 |doi= 10.1074/jbc.M301294200
*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=Collins JE, Wright CL, Edwards CA, "et al." |title=A genome annotation-driven approach to cloning the human ORFeome. |journal=Genome Biol. |volume=5 |issue= 10 |pages= R84 |year= 2005 |pmid= 15461802 |doi= 10.1186/gb-2004-5-10-r84
*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=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= 10.1080/13576500600936039

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