POLR3K

Chr 16AR

RNA polymerase III subunit K

Also known as: C11, C11-RNP3, HLD21, My010, RPC10, RPC11, RPC12.5

NCBI Gene: 51728 ENSG00000161980 UniProt: Q9Y2Y1 OMIM: 606007

The protein functions as a core component of RNA polymerase III, which synthesizes transfer RNAs and small ribosomal RNAs, and monitors transcription fidelity by cleaving mis-incorporated nucleotides. Mutations cause hypomyelinating leukodystrophy-7 with or without oligodontia, a childhood-onset disorder affecting white matter development and sometimes tooth formation, inherited in an autosomal recessive pattern. The gene shows moderate tolerance to loss-of-function variants (LOEUF 1.228), consistent with the recessive inheritance pattern observed clinically.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a small essential subunit of RNA polymerase III, the polymerase responsible for synthesizing transfer and small ribosomal RNAs in eukaryotes. The carboxy-terminal domain of this subunit shares a high degree of sequence similarity to the carboxy-terminal domain of an RNA polymerase II elongation factor. This similarity in sequence is supported by functional studies showing that this subunit is required for proper pausing and termination during transcription. Pseudogenes of this gene are found on chromosomes 13 and 17.[provided by RefSeq, Jul 2010]

OMIM ResearchGenerating clinical summary…