This gene encodes a protein component of biogenesis of lysosome-related organelles complexes (BLOC). BLOC complexes are important for the formation of endosomal-lysosomal organelles such as melanosomes and platelet dense granules. Mutations in this gene result in subtype 4 of Hermansky-Pudlak syndrome, a form of albinism. Alternative splicing results in multiple transcript variants.
Immunogen Information
Immunogen
A synthetic peptide of human HPS4 (NP_690054.1).
Gene ID
89781
Swissprot
Q9NQG7
Synonyms
HPS4BLOC3S2LE
Calculated MW
58 kDa/76 kDa/78 kDa
Observed MW
115 kDa
Applications
Reactivity
Human,Mouse,Rat
Tested Applications
WB,IF
Conjugation
Unconjugated
Dilution
WB 1:500-1:2000 IF 1:50-1:200
Concentration
1 mg/mL
Storage Buffer
PBS with 0.02% sodium azide, 50% glycerol, pH7.3
Storage Instructions
Store at -20°C. Avoid freeze / thaw cycles.
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