BZW1

Chr 2

basic leucine zipper and W2 domains 1

Also known as: 5MP2, BZAP45, Nbla10236

NCBI Gene: 9689 ENSG00000082153 UniProt: Q7L1Q6

BZW1 encodes a translation initiation regulator that represses repeat-associated non-AUG translation and enhances histone H4 gene transcription. Mutations cause autosomal dominant developmental and epileptic encephalopathy with onset in infancy, characterized by severe intellectual disability, seizures, and developmental delays. The gene is highly constrained against loss-of-function variants, reflecting its essential role in cellular function.

ResearchSummary from RefSeq, UniProt

Enables RNA binding activity and cadherin binding activity. Involved in regulation of translational initiation. Located in cytoplasm. [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

0.35

LOEUF· LoF intol.

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Mechanism

Some data sources returned errors (1)

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