POLR3D

Chr 8

RNA polymerase III subunit D

Also known as: BN51T, C53, RPC4, RPC53, TSBN51

NCBI Gene: 661 ENSG00000168495 UniProt: P05423 OMIM: 187280

The protein serves as a specific peripheral component of RNA polymerase III, which transcribes small non-coding RNAs including tRNAs, 5S rRNA, and microRNAs, and also functions as a DNA sensor in innate immune responses. Mutations cause autosomal recessive hypomyelinating leukodystrophy, typically presenting in early childhood with progressive motor deterioration, developmental delay, and cerebellar ataxia. The gene shows extremely high constraint against loss-of-function variants, indicating that such mutations are likely pathogenic when found in patients with compatible clinical presentations.

OMIM ResearchSummary from RefSeq, UniProt

This gene complements a temperature-sensitive mutant isolated from the BHK-21 Syrian hamster cell line. It leads to a block in progression through the G1 phase of the cell cycle at nonpermissive temperatures. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

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Mechanism

Some data sources returned errors (1)