BORCS5

Chr 12

BLOC-1 related complex subunit 5

Also known as: LOH12CR1, LOH1CR12

NCBI Gene: 118426 ENSG00000165714 UniProt: Q969J3

The BORCS5 protein is part of the BORC complex that regulates lysosome movement and localization by recruiting motor proteins to transport lysosomes along microtubules to the cell periphery. Mutations in BORCS5 cause autosomal recessive neurodegeneration with brain iron accumulation, typically presenting in childhood with progressive movement disorders and cognitive decline. The gene shows relatively low constraint to loss-of-function variation (pLI 0.001, LOEUF 1.13).

ResearchSummary from RefSeq, UniProt

Involved in lysosome localization and organelle transport along microtubule. Located in cytoplasmic side of lysosomal membrane; plasma membrane; and plus-end kinesin complex. Part of BORC complex. Implicated in colorectal adenocarcinoma. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.13

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)