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BLOC-1-related complex subunit 7 (BORCS7)
- Target
- BORCS7
- Molecular classification
- Other (subunit of intracellular trafficking complex; not enzyme, receptor, ion channel, or transcription factor)
01
Overview
BLOC-1-related complex subunit 7 (BORCS7) is a core member of the multisubunit BORC complex, which is responsible for the positioning and transport of lysosomes along microtubules within the cell. BORCS7, also known as Diaskedin or C10orf32, plays an essential role in directing lysosomes to the cell periphery—a process critical for cell migration, axonal integrity, and the regulation of organelle size. Mutations or deletions of BORCS7 result in severe dysfunctions, including progressive axonal dystrophy, perinatal lethality in mice, and disruptions in neuronal lysosome transport, implicating it in neurodegenerative diseases and other lysosome-related pathologies[1][3][4][5]. BORCS7 is currently not a direct target of any approved drug, but may represent a potential molecular target in diseases linked to lysosome trafficking defects.
- Other names
- BORCS7C10orf32DiaskedinFLJ40752UPF0693 protein C10orf32
02
Biological functions
Regulation of lysosome positioningOrganelle transport along microtubulesRegulation of endosome and lysosome sizeCell migrationAxonal transport in neurons
03
Disease associations
Neurodegenerative disease (progressive axonal dystrophy, motor impairment, hereditary spastic paraplegia, amyotrophic lateral sclerosis)Cancer (medulloblastoma, possible roles suggested by lysosome positioning, though direct mechanism unclear)Schizophrenia (gene-level association for related subunits in same family)Arterial tortuosity syndromeOther (Lysosomal storage disorders suggested by function)
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