ABRAXAS2

Chr 10

abraxas 2, BRISC complex subunit

Also known as: ABRO1, FAM175B, KIAA0157

NCBI Gene: 23172 ENSG00000165660 UniProt: Q15018

ABRAXAS2 encodes a component of the BRISC complex that cleaves specific polyubiquitin chains and serves as a scaffold protein for cytoplasmic retention of complex components, while also regulating mitotic spindle assembly, interferon signaling, and p53-mediated DNA damage responses. Biallelic mutations cause neurodevelopmental disorder with seizures and absent language, characterized by early-onset developmental delays, epilepsy, and severe intellectual disability. This gene shows moderate constraint against loss-of-function variants and follows autosomal recessive inheritance.

ResearchSummary from RefSeq, UniProt

Enables microtubule binding activity and polyubiquitin modification-dependent protein binding activity. Involved in nuclear chromosome segregation; protein K63-linked deubiquitination; and response to ischemia. Located in cytosol; microtubule cytoskeleton; and midbody. Part of BRISC complex. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.60

LOEUF

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Mechanism

Some data sources returned errors (1)

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