Ask about this productRelated genes to: POLR3A antibody
- Gene:
- POLR3A NIH gene
- Name:
- RNA polymerase III subunit A
- Previous symbol:
- -
- Synonyms:
- RPC1, RPC155, hRPC155
- Chromosome:
- 10q22.3
- Locus Type:
- gene with protein product
- Date approved:
- 2004-09-16
- Date modifiied:
- 2016-07-11
Related products to: POLR3A antibody
Related articles to: POLR3A antibody
- POLR3A encodes the largest subunit of RNA polymerase III (Pol III), which, together with POLR3B, forms the catalytic core essential for transcribing small non-coding RNAs, including tRNAs and 5 S rRNA. Although biallelic POLR3A variants are well-known causes of hypomyelinating leukodystrophy, a recent study has expanded the phenotypic spectrum to include peripheral neuropathy associated with heterozygous de novo variants. - Source: PubMed
Publication date: 2026/08/27
Moghadam Masoumeh GoleyjaniShokouhian EbrahimSoveyzi MohamadElahi ZohrehNafissi ShahriarNajmabadi HosseinFattahi ZohrehKahrizi Kimia - Mutations in POLR3A are associated with a diverse spectrum of phenotypes ranging from classic hypomyelination to spastic ataxia, extrapyramidal syndromes with striatal atrophy (with or without hypomyelination), and neonatal progeroid syndromes. The striatal form is characterized by distinctive clinical and radiological features, most notably extrapyramidal symptoms such as dystonia. We report two unrelated Indian children with global developmental delay, extrapyramidal features, ataxia, and speech abnormalities. The first was misdiagnosed as dyskinetic cerebral palsy secondary to neonatal hyperbilirubinemia; the second, as Leigh's-like syndrome. Neuroimaging revealed white matter changes and striatal involvement, sparing the globus pallidus. Whole-exome sequencing identified a pathogenic POLR3A variant in both. To conclude, in children presenting with extrapyramidal symptoms and striatal changes on MRI, POLR3A-related disorders should be considered as a differential. - Source: PubMed
Publication date: 2026/07/21
Gowda Vykuntaraju KReddy Viveka-SanthoshNamratha PSrinivasan Varunvenkat M - Leukodystrophies are rare genetic diseases affecting the central nervous system white matter, leading to progressive disabilities and death. Although early diagnosis is critical for therapies, the penetrance and phenotypic spectrum of many leukodystrophies remain poorly defined. Here, we integrate sequencing population screening with longitudinal electronic health record (EHR) data. Our goals were to assess the prevalence of undiagnosed leukodystrophy, characterize phenotypic variability among genotype-positive individuals, and estimate penetrance across multiple leukodystrophies. - Source: PubMed
Publication date: 2026/07/06
Happ Hannah CChristensen G BryceKnight StaceyNovoa AlfredoIsakson DarinNadauld Lincoln DQuinlan Aaron RBonkowsky Joshua L - Atrial fibrillation (AF) is the most common cardiac arrhythmia. Although familial AF frequently follows an autosomal dominant inheritance pattern, the genetic mechanisms remain incompletely defined. We sought to identify the causal variant within a previously established linkage region on chromosome 10q22-q24. - Source: PubMed
Publication date: 2026/06/09
Martínez-Moreno RebeccaPérez-Serra AlexandraShah GopiRoura ElisabetRigat Pujolàs AlbertIglesias AnnaDel Olmo BernatHong KuiRioux John DScornik Fabiana SPérez Guillermo JRoberts RobertBrugada Ramon - Biallelic variants in genes encoding the RNA polymerase III complex (Pol III) cause a spectrum of neurological disorders primarily affecting the central nervous system. Monoallelic variants have been reported in the POLR3B subunit only, associated with neurodevelopmental disorder, epilepsy, and peripheral neuropathy. We describe a novel Pol III-related disorder caused by monoallelic variants in POLR3A and presenting primarily with peripheral neuropathy. - Source: PubMed
Publication date: 2026/06/08
Ramos Luiza L PParmar Jevin MWijngaard RobinGrosz Bianca RLazar TamasMateiu LigiaVucic SteveKumar Kishore RYeow DennisRudaks Laura Ide Boer Lonnekede Vreugd AnnemarieKoolen David AGardeitchik ThatjanaCairns AnitaIyengar KrishnanKok FernandoFigueiredo Fernanda Barbosade Siqueira Carvalho Alzira AlvesMageste Barbosa Luiz SArantes Rodrigo RezendeRehbein TylerBontrager Jordan EWood Elizabeth PSowden Janet EMonahan GavinKumaheri MeutiaCuijt IvyEllis MelinaPerez-Siles GonzaloMcNamara Elyshiavan Beek RonaldMeijers Celine BTournev IvayloZuchner StephanWodak Shoshana Jvan Karnebeek Clara D MLaing NigelSemcesen Liana NStroud David AHerrmann David NGuergueltcheva VelinaKennerson Marina LOud Machteld MRavenscroft GianinaCandayan AyseJordanova Albena