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HPS1 encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Zusätzlich bieten wir Ihnen HPS1 Kits (12) und HPS1 Proteine (7) und viele weitere Produktgruppen zu diesem Protein an.
Showing 10 out of 24 products:
Human Monoclonal HPS1 Primary Antibody für ELISA, WB - ABIN969198
Kobashi, Yoshida, Miyashita, Niki, Matsushima: Hermansky-Pudlak syndrome with interstitial pneumonia without mutation of HSP1 gene. in Internal medicine (Tokyo, Japan) 2005
Show all 5 Pubmed References
Human Monoclonal HPS1 Primary Antibody für ELISA, WB - ABIN966298
Nazarian, Falcón-Pérez, DellAngelica: Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4. in Proceedings of the National Academy of Sciences of the United States of America 2003
Show all 3 Pubmed References
HPS1 mutation is associated with high hypopigmentation in Hermansky-Pudlak syndrome.
BLOC-3 is a Rab32 (zeige RAB32 Antikörper) and Rab38 (zeige RAB38 Antikörper) guanine nucleotide exchange factor (zeige RASGRF1 Antikörper), with a specific function in the biogenesis of lysosome-related organelles. Silencing of the BLOC-3 subunits Hps1 and Hps4 (zeige HPS4 Antikörper) results in the mislocalization of Rab32 (zeige RAB32 Antikörper) and Rab38 (zeige RAB38 Antikörper).
Seven mutations (six previously unreported) were described in the HPS1, HPS4 (zeige HPS4 Antikörper), and HPS5 (zeige HPS5 Antikörper) genes among Hermansky-Pudlak Syndrome patients of Mexican, Uruguayan, Honduran, Cuban, Venezuelan, and Salvadoran ancestries.
a previously unreported missense mutation (G313S) at the 3' splice junction of exon 10 of Hermansky-Pudlak syndrome 1 protein resulted in activation of a cryptic intronic splice site causing an aberrantly spliced HPS1 mRNA
Three different mutations in the HPS1 gene were found in the two families.
Data show that recombinant HPS1-HPS4 (zeige HPS4 Antikörper) produced in insect cells can be efficiently isolated as a 1:1 heterodimer, and might function as a Rab9 (zeige RAB9A Antikörper) effector in the biogenesis of lysosome-related organelles.
Description of mutations in HPS genes that cause Hermansky-Pudlak syndrome (review)
Four novel mutations were discovered and the diagnosis of HPS-1, available only on molecular grounds, has important prognostic and treatment implications.
identification as a component of two complexes, BLOC-3 and BLOC-4, involved in the biogenesis of lysosome-related organelles
observations demonstrate that the Hermansky-Pudlak syndrome 1(HPS1) and HPS4 (zeige HPS4 Antikörper) proteins are components of a cytosolic complex that is involved in the biogenesis of lysosomal-related organelles
This may account for the tight correlation between Hps1 with Ptbp1 (zeige PTBP1 Antikörper) expression levels observed across mammalian tissues.
Our study indicates that Ap3b1 (zeige AP3B1 Antikörper) gene play distinct roles in melanin production and tyrosinase (zeige TYR Antikörper) distribution compared with Hps1 gene.
The mouse genes for HPS, pale ear and pearl (zeige AP3B1 Antikörper), orthologous to the human HPS1 and HPS2 (ADTB3A (zeige AP3B1 Antikörper)) genes, copperate in production of platelet dense granules, melanosomes, and lysosomes.
The coat-color phenotype of young homozygous double-mutant mice deficient in subunits of BLOC-3 (HPS1) and BLOC-1 (pallidin (zeige PLDN Antikörper)) was indistinguishable from that of BLOC-1 (zeige PLDN Antikörper) single mutants.
This gene encodes a protein that may play a role in organelle 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.
Hermansky-Pudlak syndrome 1 protein
, Hermansky-Pudlak syndrome 1
, Hermansky-Pudlak syndrome 1 protein homolog
, Hermansky-Pudlak syndrome protein homolog
, pale ear