- HPS1
Hermansky-Pudlak syndrome 1, also known as HPS1, is a human
gene .cite web | title = Entrez Gene: HPS1 Hermansky-Pudlak syndrome 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3257| accessdate = ]PBB_Summary
section_title =
summary_text = This gene encodes a protein that may play a role inorganelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Multiple transcript variants encoding distinct isoforms have been identified for this gene; the full-length sequences of some of these have not been determined yet.cite web | title = Entrez Gene: HPS1 Hermansky-Pudlak syndrome 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3257| 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=Wildenberg SC, Oetting WS, Almodóvar C, "et al." |title=A gene causing Hermansky-Pudlak syndrome in a Puerto Rican population maps to chromosome 10q2. |journal=Am. J. Hum. Genet. |volume=57 |issue= 4 |pages= 755–65 |year= 1995 |pmid= 7573033 |doi=
*cite journal | author=Fukai K, Oh J, Frenk E, "et al." |title=Linkage disequilibrium mapping of the gene for Hermansky-Pudlak syndrome to chromosome 10q23.1-q23.3. |journal=Hum. Mol. Genet. |volume=4 |issue= 9 |pages= 1665–9 |year= 1996 |pmid= 8541858 |doi=
*cite journal | author=Oh J, Bailin T, Fukai K, "et al." |title=Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles. |journal=Nat. Genet. |volume=14 |issue= 3 |pages= 300–6 |year= 1996 |pmid= 8896559 |doi= 10.1038/ng1196-300
*cite journal | author=Bailin T, Oh J, Feng GH, "et al." |title=Organization and nucleotide sequence of the human Hermansky-Pudlak syndrome (HPS) gene. |journal=J. Invest. Dermatol. |volume=108 |issue= 6 |pages= 923–7 |year= 1997 |pmid= 9182823 |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=Wildenberg SC, Fryer JP, Gardner JM, "et al." |title=Identification of a novel transcript produced by the gene responsible for the Hermansky-Pudlak syndrome in Puerto Rico. |journal=J. Invest. Dermatol. |volume=110 |issue= 5 |pages= 777–81 |year= 1998 |pmid= 9579545 |doi= 10.1046/j.1523-1747.1998.00183.x
*cite journal | author=Dell'Angelica EC, Aguilar RC, Wolins N, "et al." |title=Molecular characterization of the protein encoded by the Hermansky-Pudlak syndrome type 1 gene. |journal=J. Biol. Chem. |volume=275 |issue= 2 |pages= 1300–6 |year= 2000 |pmid= 10625677 |doi=
*cite journal | author=Huizing M, Anikster Y, Gahl WA |title=Characterization of a partial pseudogene homologous to the Hermansky-Pudlak syndrome gene HPS-1; relevance for mutation detection. |journal=Hum. Genet. |volume=106 |issue= 3 |pages= 370–3 |year= 2000 |pmid= 10798370 |doi=
*cite journal | author=Horikawa T, Araki K, Fukai K, "et al." |title=Heterozygous HPS1 mutations in a case of Hermansky-Pudlak syndrome with giant melanosomes. |journal=Br. J. Dermatol. |volume=143 |issue= 3 |pages= 635–40 |year= 2000 |pmid= 10971344 |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=Hermos CR, Huizing M, Kaiser-Kupfer MI, Gahl WA |title=Hermansky-Pudlak syndrome type 1: gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases. |journal=Hum. Mutat. |volume=20 |issue= 6 |pages= 482 |year= 2002 |pmid= 12442288 |doi= 10.1002/humu.9097
*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=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=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=Kobashi Y, Yoshida K, Miyashita N, "et al." |title=Hermansky-Pudlak syndrome with interstitial pneumonia without mutation of HSP1 gene. |journal=Intern. Med. |volume=44 |issue= 6 |pages= 616–21 |year= 2005 |pmid= 16020891 |doi=
*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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