LMO3

Chr 12

LIM domain only 3

Also known as: RBTN3, RBTNL2, RHOM3, Rhom-3

NCBI Gene: 55885 ENSG00000048540 UniProt: Q8TAP4 OMIM: 180386

LMO3 encodes a cysteine-rich LIM domain protein that is predominantly expressed in the brain and belongs to the rhombotin family of transcriptional regulators. Mutations cause autosomal dominant developmental and epileptic encephalopathy with severe intellectual disability and seizures typically beginning in infancy. The gene shows moderate constraint against loss-of-function variants, suggesting intolerance to complete protein loss.

OMIM ResearchSummary from RefSeq

The protein encoded by this gene belongs to the rhombotin family of cysteine-rich LIM domain oncogenes. This gene is predominantly expressed in the brain. Related family members, LMO1 and LMO2 on chromosome 11, have been reported to be involved in chromosomal translocations in T-cell leukemia. Many alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011]

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

0.57

LOEUF

Multiple*

Mechanism· predicted