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Hermansky-Pudlak syndrome 6

This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 5 protein. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 6. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: HPS, HPS3, Ru2, tyrosinase, Pallid
Papers on HPS6
Defective PDI release from platelets and endothelial cells impairs thrombus formation in Hermansky-Pudlak syndrome.
Furie et al., Boston, United States. In Blood, Apr 2015
Platelet deposition and fibrin generation were nearly absent, and extracellular PDI was significantly reduced in HPS6(-/-) mice after vascular injury.
HPS6 interacts with dynactin p150Glued to mediate retrograde trafficking and maturation of lysosomes.
Liu et al., Beijing, China. In J Cell Sci, 2014
Hermansky-Pudlak syndrome 6 protein (HPS6) has originally been identified as a subunit of the BLOC-2 protein complex that is involved in the biogenesis of lysosome-related organelles.
snow white, a zebrafish model of Hermansky-Pudlak Syndrome type 5.
Gross et al., Austin, United States. In Genetics, 2013
Through in vitro coexpression assays, we demonstrate that Hps5I76N retains the ability to bind its protein complex partners, Hps3 and Hps6.
Targeting protein-trafficking pathways alters melanoma treatment sensitivity.
Wei et al., San Francisco, United States. In Proc Natl Acad Sci U S A, 2012
Mutation of the protein-trafficking gene Hps6 increased sensitivity of melanoma cells to cis-diaminedichloroplatinum II treatment.
A novel deletion mutation of mouse ruby-eye 2 named ru2(d)/Hps5(ru2-d) inhibits melanocyte differentiation and its impaired differentiation is rescued by L-tyrosine.
Soma et al., Chiba, Japan. In Zoolog Sci, 2011
In our laboratory, a single autosomal recessive mutation in a phenotype similar to ruby-eye (ru/Hps6(ru)) or ruby-eye 2 (ru2/Hps5(ru2)) spontaneously occurred in siblings of C57BL/10JHir (+/+, black) mice in 2006.
A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak Syndrome type 9.
Gahl et al., Bethesda, United States. In Am J Hum Genet, 2011
We first screened all our patients with HPS-like symptoms for mutations in the genes responsible for HPS-1 through HPS-6 and found no functional mutations in 38 individuals.
Three studies on self-report scales to detect bipolar disorder.
Carver et al., Coral Gables, United States. In J Affect Disord, 2011
METHODS: Study 1 developed a short form of the Hypomanic Personality Scale (the HPS-6) based on clinic/community and undergraduate samples.
Epithelial stress and apoptosis underlie Hermansky-Pudlak syndrome-associated interstitial pneumonia.
Guenther et al., Gießen, Germany. In Am J Respir Crit Care Med, 2010
METHODS: HPS1, HPS2, and HPS6 monomutant mice, and HPS1/2 and HPS1/6 double-mutant and genetic background mice, were killed at 3 and 9 months of age.
Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6.
Gahl et al., Bethesda, United States. In J Med Genet, 2009
Molecular studies showed a variety of mutations in the single exon HPS6 gene, including frame shift, missense, and nonsense mutations as well as a approximately 20 kb deletion spanning the entire HPS6 genomic region.
Differentially expressed genes strongly correlated with femur strength in rats.
Turner et al., Indianapolis, United States. In Genomics, 2009
Of these, 12 candidate genes were prioritized for further validation, and 8 of these genes (Ifit3, Ppp2r5b, Irf7, Mpeg1, Bloc1s2, Pycard, Sec23ip, and Hps6) were confirmed by quantitative PCR (qPCR).
Identifying putative promoter regions of Hermansky-Pudlak syndrome genes by means of phylogenetic footprinting.
Helip-Wooley et al., Bethesda, United States. In Ann Hum Genet, 2009
Specifically, BLOC-2 contains the HPS3, HPS5 and HPS6 proteins.
Hypoxic transcription gene profiles under the modulation of nitric oxide in nuclear run on-microarray and proteomics.
Brüne et al., Frankfurt am Main, Germany. In Bmc Genomics, 2008
Fourteen genes (Bnip3, Ddit4, Vegfa, Trib3, Atf3, Cdkn1a, Scd1, D4Ertd765e, Sesn2, Son, Nnt, Lst1, Hps6 and Fxyd5) were common to all treatments but with different levels of expression in each group.
A new genetic isolate with a unique phenotype of syndromic oculocutaneous albinism: clinical, molecular, and cellular characteristics.
Blumenfeld et al., Jerusalem, Israel. In Hum Mutat, 2006
Subsequently, a novel insertion mutation, c.1066-1067insG was identified in HPS6.
Reduced pigmentation (rp), a mouse model of Hermansky-Pudlak syndrome, encodes a novel component of the BLOC-1 complex.
Peters et al., Bar Harbor, United States. In Blood, 2004
HPS-associated genes participate in at least 4 distinct protein complexes: the adaptor complex AP-3; biogenesis of lysosome-related organelles complex 1 (BLOC-1), consisting of 4 HPS proteins (pallidin, muted, cappuccino, HPS7/sandy); BLOC-2, consisting of HPS6/ruby-eye, HPS5/ruby-eye-2, and HPS3/cocoa; and BLOC-3, consisting of HPS1/pale ear and HPS4/light ear.
Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6.
Dell'Angelica et al., Los Angeles, United States. In Traffic, 2004
Component of BLOC-2. Results suggest a common biological basis underlying the pathogenesis of HPS-3, -5 and -6 disease.
Hermansky-Pudlak Syndrome
Huizing et al., Seattle, United States. In Unknown Journal, 2000
Pathogenic variants in HPS1, AP3B1 (HPS2), HPS3, HPS4, HPS5, HPS6, DTNBP1 (HPS7), BLOC1S3 (HPS8), and BLOC1S6 (PLDN) are known to cause HPS.
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