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Gene Review

HPS3  -  Hermansky-Pudlak syndrome 3

Homo sapiens

Synonyms: Hermansky-Pudlak syndrome 3 protein, SUTAL
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Disease relevance of HPS3


High impact information on HPS3

  • The gene, HPS3, has 17 exons, and a putative 113.7-kD product expected to reveal how new vesicles form in specialized cells [2].
  • Here we have identified and characterized endogenous HPS3 and HPS4 proteins from HeLa cells [3].
  • A third HPS-causing gene, HPS3, was recently identified on the basis of homozygosity mapping of a genetic isolate of HPS in central Puerto Rico [4].
  • A 15-year-old Irish/English boy was heterozygous for an 89-bp insertion between exons 16 and 17 resulting from abnormal splicing; his fibroblast HPS3 mRNA is normal in amount but is increased in size [4].
  • To assess the role of the HPS3 protein in melanization, cultured melanocytes developed from HPS-3 patients were evaluated biochemically and histologically for activity and localization of melanocyte-specific proteins [5].

Biological context of HPS3


Anatomical context of HPS3


Associations of HPS3 with chemical compounds

  • This review discusses the biochemical and functional properties of the products of identified HPS genes, which include subunits of the AP-3 complex and the novel proteins HPS1p, HPS3p, HPS4p, pallidin and muted [11].

Other interactions of HPS3


Analytical, diagnostic and therapeutic context of HPS3


  1. Disorders of vesicles of lysosomal lineage: the Hermansky-Pudlak syndromes. Huizing, M., Gahl, W.A. Curr. Mol. Med. (2002) [Pubmed]
  2. Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico. Anikster, Y., Huizing, M., White, J., Shevchenko, Y.O., Fitzpatrick, D.L., Touchman, J.W., Compton, J.G., Bale, S.J., Swank, R.T., Gahl, W.A., Toro, J.R. Nat. Genet. (2001) [Pubmed]
  3. Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4. Nazarian, R., Falcón-Pérez, J.M., Dell'Angelica, E.C. Proc. Natl. Acad. Sci. U.S.A. (2003) [Pubmed]
  4. Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency. Huizing, M., Anikster, Y., Fitzpatrick, D.L., Jeong, A.B., D'Souza, M., Rausche, M., Toro, J.R., Kaiser-Kupfer, M.I., White, J.G., Gahl, W.A. Am. J. Hum. Genet. (2001) [Pubmed]
  5. Melanocyte-specific proteins are aberrantly trafficked in melanocytes of Hermansky-Pudlak syndrome-type 3. Boissy, R.E., Richmond, B., Huizing, M., Helip-Wooley, A., Zhao, Y., Koshoffer, A., Gahl, W.A. Am. J. Pathol. (2005) [Pubmed]
  6. The Hermansky-Pudlak syndrome 3 (cocoa) protein is a component of the biogenesis of lysosome-related organelles complex-2 (BLOC-2). Gautam, R., Chintala, S., Li, W., Zhang, Q., Tan, J., Novak, E.K., Di Pietro, S.M., Dell'Angelica, E.C., Swank, R.T. J. Biol. Chem. (2004) [Pubmed]
  7. Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico. Santiago Borrero, P.J., Rodríguez-Pérez, Y., Renta, J.Y., Izquierdo, N.J., Del Fierro, L., Muñoz, D., Molina, N.L., Ramírez, S., Pagán-Mercado, G., Ortíz, I., Rivera-Caragol, E., Spritz, R.A., Cadilla, C.L. J. Invest. Dermatol. (2006) [Pubmed]
  8. Milder ocular findings in Hermansky-Pudlak syndrome type 3 compared with Hermansky-Pudlak syndrome type 1. Tsilou, E.T., Rubin, B.I., Reed, G.F., McCain, L., Huizing, M., White, J., Kaiser-Kupfer, M.I., Gahl, W. Ophthalmology (2004) [Pubmed]
  9. Characterization of the murine gene corresponding to human Hermansky-Pudlak syndrome type 3: exclusion of the Subtle gray (sut) locus. Huizing, M., Anikster, Y., White, J.G., Gahl, W.A. Mol. Genet. Metab. (2001) [Pubmed]
  10. Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6. Di Pietro, S.M., Falcón-Pérez, J.M., Dell'Angelica, E.C. Traffic (2004) [Pubmed]
  11. The molecular machinery for the biogenesis of lysosome-related organelles: lessons from Hermansky-Pudlak syndrome. Starcevic, M., Nazarian, R., Dell'Angelica, E.C. Semin. Cell Dev. Biol. (2002) [Pubmed]
  12. Hermansky-Pudlak syndrome: vesicle formation from yeast to man. Huizing, M., Boissy, R.E., Gahl, W.A. Pigment Cell Res. (2002) [Pubmed]
  13. Hermansky-Pudlak syndrome type 1: gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases. Hermos, C.R., Huizing, M., Kaiser-Kupfer, M.I., Gahl, W.A. Hum. Mutat. (2002) [Pubmed]
  14. Association of the Hermansky-Pudlak syndrome type-3 protein with clathrin. Helip-Wooley, A., Westbroek, W., Dorward, H., Mommaas, M., Boissy, R.E., Gahl, W.A., Huizing, M. BMC Cell Biol. (2005) [Pubmed]
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