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BLOC1S2 pseudogene 1 (BLOC1S2P1) is a recognized human pseudogene located on the X chromosome[1][3][4]. It is a non-coding sequence homologous to the protein-coding BLOC1S2 gene. The BLOC1S2 gene encodes a subunit of the biogenesis of lysosome-related organelles complex-1 (BLOC-1), which is involved in the formation of lysosome-related organelles and important in vesicle trafficking, melanosome and platelet dense granule biogenesis, and may play roles in neurodevelopment and signaling pathways such as Notch[1][2][3][4]. However, BLOC1S2P1 itself does not produce a functional protein, has no known therapeutic or biological roles, and is not a therapeutic target.
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