POLR3E

Chr 16

RNA polymerase III subunit E

Also known as: C37, RPC5, SIN

NCBI Gene: 55718 ENSG00000058600 UniProt: Q9NVU0

The protein is a component of RNA polymerase III that synthesizes small non-coding RNAs including tRNAs, 5S rRNA, and snRNAs, and also functions as a DNA sensor in innate immune responses. Mutations cause hypomyelinating leukodystrophy, which follows autosomal recessive inheritance and typically presents in infancy or early childhood with developmental delays and progressive neurological deterioration. The gene is highly constrained against loss-of-function variants (LOEUF 0.453), reflecting its essential cellular functions.

GeneReviews ResearchSummary from RefSeq, UniProt

Involved in termination of RNA polymerase III transcription and transcription initiation at RNA polymerase III promoter. Located in nucleoplasm. Part of RNA polymerase III complex. [provided by Alliance of Genome Resources, Jun 2026]

GeneReviews 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

0.45

LOEUF

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Mechanism

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GeneReview available — POLR3E