FAM234B

Chr 12

family with sequence similarity 234 member B

Also known as: KIAA1467

NCBI Gene: 57613 ENSG00000084444 UniProt: A2RU67

The FAM234B protein is predicted to localize to the Golgi apparatus, membrane, and microtubule organizing center, though its specific molecular function remains unclear. Mutations in this gene cause autosomal recessive developmental delay with seizures and microcephaly, representing a rare neurodevelopmental disorder with onset in early childhood. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.499), consistent with its role in normal neurodevelopment.

ResearchSummary from RefSeq

Predicted to be located in Golgi apparatus; membrane; and microtubule organizing center. [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

0.50

LOEUF

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Mechanism

Some data sources returned errors (1)

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