BORCS8

Chr 19AR

BLOC-1 related complex subunit 8

Also known as: MEF2BNB, NDOABA

NCBI Gene: 729991 ENSG00000254901 UniProt: Q96FH0 OMIM: 616601

BORCS8 encodes a component of the BLOC-one-related complex (BORC) that regulates lysosomal positioning and transport by recruiting ARL8B to lysosomal membranes and coupling lysosomes to kinesin motors for movement toward the cell periphery. Mutations cause autosomal recessive intellectual developmental disorder with seizures and language delay, typically presenting in early childhood with developmental delays and epilepsy. The gene shows tolerance to loss-of-function variants, suggesting that complete loss of protein function may be required for disease manifestation.

OMIM ResearchSummary from RefSeq, UniProt

Involved in heart development. Part of BORC complex. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalitiesMIM #620987

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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