RESF1

Chr 12

retroelement silencing factor 1

Also known as: C12orf35, GET, KIAA1551, UTA2-1

NCBI Gene: 55196 ENSG00000174718 UniProt: Q9HCM1 OMIM: 615621

The RESF1 protein regulates imprinted gene expression and maintains repressive chromatin modifications by recruiting SETDB1 to silence endogenous retroviruses in embryonic stem cells. Mutations cause neurodevelopmental disorders with autosomal recessive inheritance. This gene is highly constrained against loss-of-function variants, indicating that complete protein loss is likely incompatible with normal development.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to enable histone binding activity and histone methyltransferase binding activity. Predicted to be involved in transposable element silencing by heterochromatin formation. Predicted to act upstream of or within response to bacterium. Located in nucleolus. [provided by Alliance of Genome Resources, Jun 2026]

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)

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P/LP submissions

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P/LP missense

0.41

LOEUF

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Mechanism