Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Proteintech
Promotion
View available promotion(s)
Promo code: {{promo.promoCode}} {{promo.promoDescription}}. {{$productOrderCtrl.translations['antibody.pdp.commerceCard.promotion.learnmore']}}
Immunogen sequence: MKCVLVATE GAEVLFYWTD QEFEESLRLK FGQSENEEEE LPALEDQLST LLAPVIISSM TMLEKLSDTY TCFSTENGNF LYVLHLFGEC LFIAINGDHT ESEGDLRRKL YVLKYLFEVH FGLVTVDGHL IRKELRPPDL AQRVQLWEHF QSLLWTYSRL REQEQCFAVE ALERLIHPQL CELCIEALER HVIQAVNTSP ERGGEEALHA FLLVHSKLLA FYSSHSASSL RPADLLALIL LVQDLYPSES TAEDDIQPSP RRARSSQNIP VQQAWSPHST GPTGGSSAET ETDSFSLPEE YFTPAPSPGD QSSGEDRRKA GGNNS (1-324 aa encoded by BC000175)
Hermansky-Pudlak syndrome (HPS) is a rare, genetically heterogeneous, autosomal recessive disorder. It is characterized by oculocutaneous albinism, lysosomal storage defects and prolonged bleeding due to platelet storage pool deficiency. There are 10 HPS genes encoding HPS proteins that all interact within three distinct ubiquitously expressed protein complexes or biogenesis of lysosome-related organelle complexes. Defects in these genes cause HPS. HSP-1 is a component of multiple cytoplasmic organelles and is important for their normal development and function. It plays a role in intracellular protein sorting.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: BLOC-3 complex member HPS1; Hermansky-Pudlak syndrome 1 protein; MGC5277
Gene Aliases: BLOC3S1; HPS; HPS1
UniProt ID: (Human) Q92902
Entrez Gene ID: (Human) 3257
If an Invitrogen™ antibody doesn't perform as described on our website or datasheet,we'll replace the product at no cost to you, or provide you with a credit for a future purchase.*
Learn moreGet expert recommendations for common problems or connect directly with an on staff expert for technical assistance related to applications, equipment and general product use.
Contact tech support