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Gene Review

HPS5  -  Hermansky-Pudlak syndrome 5

Homo sapiens

Synonyms: AIBP63, Alpha-integrin-binding protein 63, Hermansky-Pudlak syndrome 5 protein, KIAA1017, Ru2, ...
 
 
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Disease relevance of HPS5

 

High impact information on HPS5

  • Genetic screening of 15 unassigned HPS patients yielded six new HPS5 mutations in four patients [1].
  • We first analyzed the genomic organization and the RNA expression pattern of HPS5, located on chromosome 11p14, and demonstrated tissue-specific expression of at least three alternatively spliced HPS5 mRNA transcripts, coding for HPS5A and HPS5B proteins, that differ at their 5'-ends [1].
  • In two patients with homozygous missense mutations, hemizygosity was ruled out by gene-dosage multiplex polymerase chain reaction, and immunocytochemical analyses of their fibroblasts supported the HPS-5 diagnosis [1].
  • A different synthetic approach, stepwise synthesis, allowed us to synthesize the two multicomponent compounds [(bpy)(2)Ru(mu-1)Ru(bpy)(2)](4+) (Ru2; bpy = 2,2'-bipyridine) and [[(bpy)(2)Ru(mu-2,3-dpp)](2)Ru(mu-1)Ru[(mu-2,3-dpp)Ru(bpy)(2)](2)](12+) (Ru6; 2,3-dpp = 2,3-bis(2-pyridyl)pyrazine) [2].
  • So far, a single HPS-6 patient phenotypically similar to HPS-3 and HPS-5 has been identified [3].
 

Anatomical context of HPS5

  • This specific intracellular vesicle distribution in fibroblasts, in combination with the clinical features, will improve the characterization of the HPS-5 subtype [1].
 

Analytical, diagnostic and therapeutic context of HPS5

  • We report a scanning tunneling microscopy (STM) investigation of a dinuclear organometallic molecule, trans-[Cl(dppe)(2)Ru(C identical withC)(6)Ru(dppe)(2)Cl] (Ru2), absorbed on a Au(111) surface; this molecule is a potential candidate for use in molecular quantum-dot cellular automata (QCA) devices [4].

References

  1. Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5. Huizing, M., Hess, R., Dorward, H., Claassen, D.A., Helip-Wooley, A., Kleta, R., Kaiser-Kupfer, M.I., White, J.G., Gahl, W.A. Traffic (2004) [Pubmed]
  2. A new polytopic bis-diazacrown-ether-polypyridine ligand and its complexes with Zn(II) salts and mononuclear and dendritic Ru(II) precursors. Synthesis, absorption spectra, redox behavior, and luminescence properties. Loiseau, F., Di Pietro, C., Serroni, S., Campagna, S., Licciardello, A., Manfredi, A., Pozzi, G., Quici, S. Inorganic chemistry. (2001) [Pubmed]
  3. A new genetic isolate with a unique phenotype of syndromic oculocutaneous albinism: clinical, molecular, and cellular characteristics. Schreyer-Shafir, N., Huizing, M., Anikster, Y., Nusinker, Z., Bejarano-Achache, I., Maftzir, G., Resnik, L., Helip-Wooley, A., Westbroek, W., Gradstein, L., Rosenmann, A., Blumenfeld, A. Hum. Mutat. (2006) [Pubmed]
  4. Observation of single dinuclear metal-complex molecules using scanning tunneling microscopy. Wei, Z., Guo, S., Kandel, S.A. The journal of physical chemistry. B, Condensed matter, materials, surfaces, interfaces & biophysical. (2006) [Pubmed]
 
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