POLR3A
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
- ^ a b c GRCh38: Ensembl release 89: ENSG00000148606 – Ensembl, May 2017
- ^ a b c 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.