FAM53B

Chr 10

family with sequence similarity 53 member B

Also known as: KIAA0140, bA12J10.2, smp

NCBI Gene: 9679 ENSG00000189319 UniProt: Q14153 OMIM: 617289

FAM53B encodes a protein that regulates the Wnt signaling pathway by controlling beta-catenin nuclear localization. Mutations cause autosomal dominant intellectual disability with seizures and behavioral abnormalities. The gene is highly constrained against loss-of-function variants, indicating that haploinsufficiency is likely not well tolerated.

OMIM ResearchSummary from RefSeq, UniProt

Involved in positive regulation of canonical Wnt signaling pathway. Located in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

OMIM 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)

—

P/LP submissions

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P/LP missense

0.42

LOEUF

LOF

Mechanism· predicted