BLOC1S4
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
