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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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: BLOC-3 complex member HPS1; Hermansky-Pudlak syndrome 1 protein; Hermansky-Pudlak syndrome 1 protein homolog; Hermansky-Pudlak syndrome protein homolog; MGC5277; pale ear
基因别名: 6030422N11Rik; BB405864; Ep; Gm21361; Hps; Hps1
UniProt ID: (Mouse) O08983
Entrez Gene ID: (Mouse) 192236, (Rat) 114638