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HPS1 encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. 再加上，我们可以发HPS1 试剂盒 (12) 和 HPS1 蛋白 (7)和数多这个蛋白质的别的产品。
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Human Monoclonal HPS1 Primary Antibody for 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
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Human Monoclonal HPS1 Primary Antibody for 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
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HPS1 mutation is associated with high hypopigmentation in Hermansky-Pudlak syndrome.
BLOC-3 is a Rab32 (显示 RAB32 抗体) and Rab38 (显示 RAB38 抗体) guanine nucleotide exchange factor (显示 RASGRF1 抗体), with a specific function in the biogenesis of lysosome-related organelles. Silencing of the BLOC-3 subunits Hps1 and Hps4 (显示 HPS4 抗体) results in the mislocalization of Rab32 (显示 RAB32 抗体) and Rab38 (显示 RAB38 抗体).
Seven mutations (six previously unreported) were described in the HPS1, HPS4 (显示 HPS4 抗体), and HPS5 (显示 HPS5 抗体) 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 (显示 HPS4 抗体) produced in insect cells can be efficiently isolated as a 1:1 heterodimer, and might function as a Rab9 (显示 RAB9A 抗体) 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 (显示 HPS4 抗体) 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 (显示 PTBP1 抗体) expression levels observed across mammalian tissues.
Our study indicates that Ap3b1 (显示 AP3B1 抗体) gene play distinct roles in melanin production and tyrosinase (显示 TYR 抗体) distribution compared with Hps1 gene.
The mouse genes for HPS, pale ear and pearl (显示 AP3B1 抗体), orthologous to the human HPS1 and HPS2 (ADTB3A (显示 AP3B1 抗体)) 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 (显示 PLDN 抗体)) was indistinguishable from that of BLOC-1 (显示 PLDN 抗体) 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