CAB39

Chr 2

calcium binding protein 39

NCBI Gene: 51719 ENSG00000135932 UniProt: Q9Y376

The protein is a component of a complex that binds and activates the STK11/LKB1 kinase, stabilizing interactions within this serine/threonine protein kinase complex involved in intracellular signaling and protein phosphorylation regulation. Mutations cause autosomal recessive intellectual disability with seizures and language delay, typically presenting in early childhood. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.63), suggesting some intolerance to complete protein loss.

ResearchSummary from RefSeq, UniProt

Component of a complex that binds and activates STK11/LKB1. In the complex, required to stabilize the interaction between CAB39/MO25 (CAB39/MO25alpha or CAB39L/MO25beta) and STK11/LKB1

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

0.63

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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