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HPS1 encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes.
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HPS1 mutation is associated with high hypopigmentation in Hermansky-Pudlak syndrome.
BLOC-3 is a Rab32 (zeige RAB32 Proteine) and Rab38 (zeige RAB38 Proteine) guanine nucleotide exchange factor (zeige RASGRF1 Proteine), with a specific function in the biogenesis of lysosome-related organelles. Silencing of the BLOC-3 subunits Hps1 and Hps4 (zeige HPS4 Proteine) results in the mislocalization of Rab32 (zeige RAB32 Proteine) and Rab38 (zeige RAB38 Proteine).
Seven mutations (six previously unreported) were described in the HPS1, HPS4 (zeige HPS4 Proteine), and HPS5 (zeige HPS5 Proteine) 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 Proteine) produced in insect cells can be efficiently isolated as a 1:1 heterodimer, and might function as a Rab9 (zeige RAB9A Proteine) 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 Proteine) 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 Proteine) expression levels observed across mammalian tissues.
Our study indicates that Ap3b1 (zeige AP3B1 Proteine) gene play distinct roles in melanin production and tyrosinase (zeige TYR Proteine) distribution compared with Hps1 gene.
The mouse genes for HPS, pale ear and pearl (zeige AP3B1 Proteine), orthologous to the human HPS1 and HPS2 (ADTB3A (zeige AP3B1 Proteine)) 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 Proteine)) was indistinguishable from that of BLOC-1 (zeige PLDN Proteine) 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