BLOC-1-related complex subunit 5 (BORCS5)

BLOC-1-related complex subunit 5 (BORCS5), also known as myrlysin (LOH12CR1, LOH1CR12), is a protein-coding gene that encodes a subunit of the multiprotein BORC (BLOC-one-related complex). BORCS5 localizes to the cytosolic face of the lysosomal membrane and, as part of the BORC complex, is essential for recruiting the small GTPase ARL8B to lysosomes. This recruitment is required for coupling lysosomes to kinesin motor complexes and enabling their microtubule-based anterograde transport toward the cell periphery[2][3][4][6]. BORCS5 thus plays a key role in regulating lysosome positioning, cell motility, and lysosomal function. Dysfunction or loss of BORCS5 leads to abnormal lysosome clustering and impaired organelle distribution, and pathogenic variants are associated with a spectrum of neurodevelopmental phenotypes, including lethal arthrogryposis multiplex congenita, brain malformations, epilepsy, and neurodegeneration[1][4]. There is no current evidence that BORCS5 is a direct therapeutic target or that interacting drugs or clinical biomarkers exist for this protein.

Other names

LOH12CR1MyrlysinLOH1CR12Loss of heterozygosity 12 chromosomal region 1Myristoylated lysosomal protein