LMO4

Chr 1

LIM domain only 4

NCBI Gene: 8543 ENSG00000143013 UniProt: P61968 OMIM: 603129

LMO4 encodes a transcription cofactor that contains two LIM domains and functions in establishing motor neuron identity by disrupting LDB1-LHX3 complexes to negatively regulate interneuron genes in motor neurons. Mutations cause autosomal dominant developmental and epileptic encephalopathy with onset in infancy, characterized by severe intellectual disability, seizures, and motor dysfunction. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.595), consistent with its essential role in neurodevelopment.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a cysteine-rich protein that contains two LIM domains but lacks a DNA-binding homeodomain. The encoded protein may play a role as a transcriptional regulator or as an oncogene. [provided by RefSeq, Aug 2008]

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

—

P/LP missense

0.59

LOEUF

Multiple*

Mechanism· predicted