POLR3K Chromosome 16

RNA polymerase III subunit K
2 variants 2 Health Risk

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What This Gene Does
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]
Gene Info
Gene Group
RNA polymerase subunits
Locus Type
gene with protein product
Location
16p13.3
Ensembl
ENSG00000161980
Associated Conditions (3)
Leukodystrophy
hypomyelinating
21
Key Variants
All Variants (2)
RSID Category Clinical Significance Conditions
RS1288202550 Health Risk Pathogenic Leukodystrophy, hypomyelinating, 21
RS1432006875 Health Risk Pathogenic Leukodystrophy, hypomyelinating, 21
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