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Target intelligence / Profile preview
Hermansky–Pudlak syndrome 3 protein (HPS3)
- Target
- HPS3
- Molecular classification
- Other, Component of biogenesis of lysosome-related organelles complex-2 (BLOC-2)
01
Overview
Hermansky–Pudlak syndrome 3 protein (HPS3) is a component of the biogenesis of lysosome-related organelles complex-2 (BLOC-2), which mediates sorting and trafficking of proteins necessary for the proper formation of lysosome-related organelles (LROs) such as melanosomes in pigment cells and dense granules in platelets. Mutations in the HPS3 gene result in Hermansky–Pudlak syndrome type 3, a disorder characterized by oculocutaneous albinism and a bleeding diathesis due to defective LRO biogenesis and abnormal organelle function in affected cell types.
- Other names
- HPS3BLOC2S1SUTALHermansky–Pudlak syndrome 3 proteinDKFZp686F0413FLJ22704HPS3_HUMAN
02
Biological functions
Organelle biogenesisProtein sorting and traffickingMelanosome and dense granule formation
03
Disease associations
Othercausative gene in Hermansky–Pudlak syndrome type 3, characterized by albinism and bleeding diathesis
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