• Official Full Name
  • Hermansky-Pudlak syndrome 3
  • Background
  • This gene encodes a protein containing a potential clathrin-binding motif, consensus dileucine signals, and tyrosine-based sorting signals for targeting to vesicles of lysosomal lineage. The encoded protein may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 3. Alternate splice variants exist, but their full length sequence has not been determined.
  • Synonyms
  • HPS3; Hermansky-Pudlak syndrome 3; Hermansky-Pudlak syndrome 3 protein; SUTAL; Cocoa; DKFZp686F0413; FLJ22704; Hermansky Pudlak syndrome 3; Hermansky Pudlak syndrome 3 protein
Source (Host):Wheat GermSpecies:Human
Product nameRecombinant Human HPS3 Protein, GST-tagged
Source (Host):E. coliSpecies:Human
Product nameRecombinant Human HPS3, GST-tagged
Source (Host):Mammalian CellsSpecies:Zebrafish
Product nameRecombinant Zebrafish HPS3
Source (Host):Species:Human
Product nameRecombinant Human HPS3 293 Cell Lysate

HPS3 Related Articles

Gimelli, G; Giorda, R; et al. A large analphoid invdup(3)(q22.3qter) marker chromosome characterized by array-CGH in a child with malformations, mental retardation, ambiguous genitalia and Blaschko's lines. EUROPEAN JOURNAL OF MEDICAL GENETICS 50:264-273(2007).
Helip-Wooley, A; Westbroek, W; et al. Association of the Hermansky-Pudlak syndrome type-3 protein with clathrin. BMC CELL BIOLOGY 6:-(2005).