RTL4

Chr X

retrotransposon Gag like 4

Also known as: Mar4, Mart4, SIRH1, SIRH11, ZCCHC16

NCBI Gene: 340595 ENSG00000187823 UniProt: Q6ZR62

The RTL4 protein binds nucleic acids and zinc ions and is involved in cognitive function in the brain, possibly via the noradrenergic system. Mutations cause intellectual disability with severe speech delay and mild dysmorphism, inherited in an autosomal recessive pattern. This gene shows low constraint to loss-of-function variation, consistent with the recessive inheritance pattern observed clinically.

ResearchSummary from RefSeq, UniProt

Predicted to enable nucleic acid binding activity and zinc ion binding activity. Predicted to act upstream of or within cognition and norepinephrine metabolic process. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.79

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429