| POLR3A | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | POLR3A, ADDH, HLD7, RPC1, RPC155, hRPC155, polymerase (RNA) III subunit A, RNA polymerase III subunit A, WDRTS, C160 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 614258; MGI: 2681836; HomoloGene: 5124; GeneCards: POLR3A; OMA:POLR3A - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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RNA polymerase III subunit A is an enzyme which is encoded by the gene POLR3A.5
Gene
The POLR3A gene is located on the long arm (q) of chromosome 10 on position 22.3, from base pair from base pair 77,975,149 to base pair 78,029,515.6
Function
RNA polymerase III subunit A (this gene) along with subunit B (POLR3B) forms the catalytic core of RNA polymerase III. Together, these two subunits create the active center of the enzyme where RNA synthesis occurs.7
RNA polymerase III subunit A also detects foreign DNA and triggers an innate immune response.8
Clinical significance
Wiedemann–Rautenstrauch syndrome
Wiedemann–Rautenstrauch syndrome is a rare genetic disorder, which is characterised by prenatal and postnatal growth restriction, lipodystrophy, sparse hair, relatively large head, and a peculiar face. Intellectual disability is also common.9
4H leukodystrophy
4H leukodystrophy is a rare genetic disorder, which is characterised by hypogonadotropic hypogonadism, dental abnormalities, and hypomyelination.10
References
References
- GRCh38: Ensembl release 89: ENSG00000148606 – Ensembl, May 2017
- GRCm38: Ensembl release 89: ENSMUSG00000025280 – Ensembl, May 2017
- "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- "POLR3A Gene - RNA Polymerase III Subunit A".
- "Genome Data Viewer - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2025-07-29.
- Saitsu H, Osaka H, Sasaki M, Takanashi JI, Hamada K, Yamashita A, et al. (2011-11-11). "Mutations in POLR3A and POLR3B Encoding RNA Polymerase III Subunits Cause an Autosomal-Recessive Hypomyelinating Leukoencephalopathy". American Journal of Human Genetics. 89 (5): 644–651. doi:10.1016/j.ajhg.2011.10.003. ISSN 0002-9297. PMC 3213392. PMID 22036171.
- "POLR3A RNA polymerase III subunit A [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2025-07-29.
- "Orphanet: Wiedemann-Rautenstrauch syndrome". www.orpha.net. Retrieved 2025-07-29.
- "Orphanet: 4H leukodystrophy". www.orpha.net. Retrieved 2025-07-29.




