BLOC1S4

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Description

The BLOC1S4 (biogenesis of lysosomal organelles complex 1 subunit 4) is a protein-coding gene located on chromosome 4.

BLOC1S4 is a component of the BLOC-1 complex, which is essential for the proper formation of lysosome-related organelles (LROs) like platelet dense granules and melanosomes. Working in conjunction with the AP-3 complex, BLOC-1 directs membrane protein cargo into vesicles that originate at the cell body and are transported to neurites and nerve terminals. Additionally, BLOC-1, alongside SNARE proteins, is thought to play a role in the growth of neurites. BLOC1S4 contributes to the overall process of intracellular vesicle trafficking.

BLOC1S4 is also known as BCAS4L, BLOS4, CNO.

Associated Diseases

• Hermansky-Pudlak syndrome
• Hermansky-Pudlak syndrome without pulmonary fibrosis
• Glanzmann thrombasthenia 1
• Hermansky-Pudlak syndrome 9
• Hermansky-Pudlak syndrome 7
• Hermansky-Pudlak syndrome 11
• uncombable hair syndrome
• Hermansky-Pudlak syndrome 3
• thrombocytopenia 7
• bleeding disorder, platelet-type, 24
• Griscelli syndrome type 3
• Chediak-Higashi syndrome
• retinitis pigmentosa and erythrocytic microcytosis
• Clouston syndrome
• Griscelli syndrome