Target intelligence / Profile preview

BLOC-2 complex member HPS5 (HPS5)

Target
HPS5
Molecular classification
Carrier protein (by homology/function), Peripheral membrane protein (as part of BLOC-2 complex), Multiprotein complex subunit (BLOC-2), Other (organelle biogenesis factor)
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Overview

BLOC-2 complex member HPS5 (abbreviated HPS5) is a subunit of the Biogenesis of Lysosome-related Organelles Complex-2 (BLOC-2) and plays a crucial role in the formation and function of lysosomes and highly specialized organelles, notably melanosomes and platelet dense granules. The complex is composed of HPS3, HPS5, and HPS6 proteins, and participates in vesicular trafficking and organelle biogenesis. Mutations in the HPS5 gene are causative for Hermansky-Pudlak syndrome type 5, an autosomal recessive disorder characterized by albinism and bleeding diathesis due to impaired organelle formation[1][5][3][8]. There is no established evidence that HPS5 is a druggable target, and there are no drugs known to directly interact with it.

Other names
Alpha-integrin-binding protein 63Hermansky-Pudlak syndrome 5 proteinAIBP63KIAA1017Ru2BLOC2S2Ruby-eye protein 2 homolog
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Mechanism of action

Not applicable; no drugs target HPS5 directly.

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Biological functions

Organelle biogenesis (lysosomes, melanosomes, platelet dense granules)Intracellular vesicular trafficking (in fibroblasts)Regulation of specialized lysosome-related organellesMay modulate integrin functions
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Disease associations

Hermansky-Pudlak syndrome type 5 (mutation causative)Albinism (component of Hermansky-Pudlak syndrome pathophysiology)Prolonged bleeding (via defective platelet dense granule formation)
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Safety considerations

None reported as therapeutic target; as mutation, the safety concern is for disease pathophysiology
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Biomarkers

Mutations in HPS5 serve as a diagnostic biomarker for Hermansky-Pudlak syndrome type 5

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