2 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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21PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
BLOC-1 complexprotein bindingneuron projection developmentanterograde synaptic vesicle transportHermansky-Pudlak syndromeGriscelli diseaseHermansky-Pudlak syndrome without pulmonary fibrosisGlanzmann thrombasthenia 1
Based on limited published evidence, BLOC1S4 is a component of the BLOC-1 complex required for biogenesis of lysosome-related organelles including melanosomes and platelet dense granules. It functions in protein trafficking and vesicle targeting in concert with the AP-3 complex, directing membrane cargo into vesicles for neuronal delivery 1. BLOC1S4 participates in anterograde axonal and synaptic vesicle transport, neurite extension, and melanosome organization. Disruption of BLOC-1-mediated protein trafficking pathways can modulate melanoma chemotherapy sensitivity by altering melanosome formation and drug sequestration 2.
1
Established BLOC-1 as a complex involved in lysosome-related organelle biogenesis and identified BLOC1S4 (cappuccino) as a novel BLOC-1 component essential for complex assembly
PMID: 125763212
Demonstrated that modulating BLOC-1-mediated protein trafficking affects melanosome formation and melanoma chemotherapy sensitivity
PMID: 22203954⚠Limited data available — This gene has 2 indexed publications. Summary and analysis may be incomplete.
Hermansky-Pudlak syndromeOpen Targets
Griscelli diseaseOpen Targets
Hermansky-Pudlak syndrome without pulmonary fibrosisOpen Targets
Glanzmann thrombasthenia 1Open Targets
MYH9-related diseaseOpen Targets
Hermansky-Pudlak syndrome 9Open Targets
Hermansky-Pudlak syndrome type 9Open Targets
type 1 diabetes mellitusOpen Targets
Hermansky-Pudlak syndrome 7Open Targets
Hermansky-Pudlak syndrome type 7Open Targets
Hermansky-Pudlak syndrome 11Open Targets
uncombable hair syndromeOpen Targets
Hermansky-Pudlak syndrome 3Open Targets
Griscelli disease type 1Open Targets
Griscelli syndrome type 1Open Targets
thrombocytopenia 7Open Targets
bleeding disorder, platelet-type, 24Open Targets
Griscelli disease type 3Open Targets
Griscelli syndrome type 3Open Targets
Chédiak-Higashi syndromeOpen Targets
No pathogenic variants reported on ClinVar for this gene.