BLOC-1 related complex subunit 8 (BORCS8)

BLOC-1 related complex subunit 8 (BORCS8) is a small, highly conserved protein component of the BLOC-one-related complex (BORC), a multiprotein complex of eight subunits (BORCS1–8) that associates with the cytosolic face of lysosomes. BORC recruits the ARL8 GTPase to the lysosomal membrane and couples lysosomes to microtubule plus-end-directed motor proteins (such as kinesin-1 and kinesin-3), thereby driving lysosome transport toward the cell periphery in most cell types and distal axon in neurons. BORCS8 is essential for the stability and assembly of the BORC complex; its loss destabilizes other subunits, affecting lysosome distribution and impacting processes like autophagy and cell migration. Pathogenic biallelic variants in BORCS8 cause a severe, early-onset neurodegenerative disorder characterized by global developmental delay, intellectual disability, hypotonia, muscle wasting, optic atrophy, and brain abnormalities, underscoring its role in neuronal health and lysosomal function. BORCS8 is not known to be a direct therapeutic target, receptor, enzyme, or transporter, but appears critical for normal lysosome dynamics and neuronal maintenance.

Other names

MEF2BNBMEF2B neighborNDOABABLOC-1-related complex subunit 8MEF2B neighbor gene proteinprotein MEF2BNBBORC8