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HPS1 encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Additionally we are shipping HPS1 Antibodies (26) and HPS1 Proteins (7) and many more products for this protein.
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HPS1 mutation is associated with high hypopigmentation in Hermansky-Pudlak syndrome.
BLOC-3 is a Rab32 and Rab38 guanine nucleotide exchange factor, with a specific function in the biogenesis of lysosome-related organelles. Silencing of the BLOC-3 subunits Hps1 and Hps4 results in the mislocalization of Rab32 and Rab38.
Seven mutations (six previously unreported) were described in the HPS1, HPS4 (show HPS4 ELISA Kits), and HPS5 (show HPS5 ELISA Kits) 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 produced in insect cells can be efficiently isolated as a 1:1 heterodimer, and might function as a Rab9 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 (show HPS4 ELISA Kits) 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 (show PTBP1 ELISA Kits) expression levels observed across mammalian tissues.
Our study indicates that Ap3b1 (show AP3B1 ELISA Kits) gene play distinct roles in melanin production and tyrosinase (show TYR ELISA Kits) distribution compared with Hps1 gene.
The mouse genes for HPS, pale ear and pearl (show AP3B1 ELISA Kits), orthologous to the human HPS1 and HPS2 (ADTB3A (show AP3B1 ELISA Kits)) 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) was indistinguishable from that of BLOC-1 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