HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
POLR3A
RNA polymerase III subunit A
Chromosome 10 Β· 10q22.3
NCBI Gene: 11128Ensembl: ENSG00000148606.16HGNC: HGNC:30074UniProt: O14802
133PubMed Papers
22Diseases
1Drugs
132Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
RESEARCH IMPACT
Variant-Rich
CLINICAL
Clinical TrialsOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
magnesium ion bindingtRNA transcription by RNA polymerase IIIinnate immune responsenucleusWiedemann-Rautenstrauch syndromeLeukoencephalopathy - ataxia - hypodontia - hypomyelinationleukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadismHypomyelination - hypogonadotropic hypogonadism - hypodontia
✦AI Summary

POLR3A encodes the catalytic core subunit of RNA polymerase III (Pol III), a DNA-dependent RNA polymerase that synthesizes small non-coding RNAs including 5S rRNA, tRNAs, snRNAs, and miRNAs from over 500 genomic loci 1. POLR3A forms the active catalytic center with subunit POLR3B, with the POLR3A-contributed DxDGD motif coordinating magnesium ions essential for phosphodiester bond formation during nucleotide addition 2. The Pol III transcription cycle proceeds through initiation, elongation, and termination stages, with POLR3A recruited to type I, II, or III promoters via general transcription factors 3. Beyond transcription, POLR3A functions as a nuclear and cytosolic DNA sensor in innate immunity, detecting non-self dsDNA and transcribing it into dsRNA that triggers type I interferon responses through the RIG-I pathway 4. Additionally, POLR3A is actively recruited to DNA double-strand breaks by the MRN complex to synthesize protective RNA-DNA hybrids during homologous recombination repair 5. Clinically, POLR3A mutations cause hypomyelinating leukodystrophy type 7 and account for approximately 3% of autosomal recessive spastic ataxia cases, particularly when intronic mutations activate cryptic splice sites, presenting with adolescent-onset progressive spastic ataxia, tremor, and dental abnormalities 6. POLR3A mutations also associate with varicella zoster virus susceptibility 4, and somatic POLR3A mutations in cancer patients coincide with POLR3-directed autoimmunity in scleroderma 7.

Sources cited
1
POLR3A synthesizes 5S rRNA, snRNAs, tRNAs and miRNAs from at least 500 distinct genomic loci
PMID: 19609254
2
POLR3A contributes a DxDGD motif coordinating magnesium ions essential for catalytic function
PMID: 33558764
3
POLR3A is recruited to DNA promoters type I, II or III during transcription initiation
PMID: 20413673
4
POLR3A functions as DNA sensor in innate immunity detecting non-self dsDNA and triggering interferon responses via RIG-I pathway; mutations cause neurological disease including hypomyelinating leukodystrophy
PMID: 34395528
5
POLR3A is recruited to DNA double-strand breaks and synthesizes protective RNA-DNA hybrids during homologous recombination repair
PMID: 33626331
6
POLR3A mutations account for ~3% of autosomal recessive spastic ataxia cases with intronic mutations causing adolescent-onset progressive ataxia with tremor and dental abnormalities
PMID: 28459997
7
Somatic POLR3A mutations in cancer patients coincide with POLR3-directed autoimmunity in scleroderma
PMID: 36196176
Disease Associationsβ“˜22
Wiedemann-Rautenstrauch syndromeOpen Targets
0.81Strong
Leukoencephalopathy - ataxia - hypodontia - hypomyelinationOpen Targets
0.80Strong
leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadismOpen Targets
0.73Strong
Hypomyelination - hypogonadotropic hypogonadism - hypodontiaOpen Targets
0.68Moderate
POLR3A-related disorderOpen Targets
0.64Moderate
leukodystrophyOpen Targets
0.55Moderate
POLR-related leukodystrophyOpen Targets
0.51Moderate
genetic disorderOpen Targets
0.50Moderate
hypomyelination-hypogonadotropic hypogonadism-hypodontia syndromeOpen Targets
0.37Weak
odontoleukodystrophyOpen Targets
0.37Weak
tremor-ataxia-central hypomyelination syndromeOpen Targets
0.37Weak
ovarian neoplasmOpen Targets
0.35Weak
spastic ataxiaOpen Targets
0.35Weak
hereditary ataxiaOpen Targets
0.33Weak
neurodegenerative diseaseOpen Targets
0.31Weak
Intellectual disabilityOpen Targets
0.27Weak
hypomyelinating leukodystrophy 4Open Targets
0.27Weak
movement disorderOpen Targets
0.26Weak
substance-related disorderOpen Targets
0.23Weak
rheumatic diseaseOpen Targets
0.21Weak
Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadismUniProt
Wiedemann-Rautenstrauch syndromeUniProt
Pathogenic Variants132
NM_007055.4(POLR3A):c.3205C>T (p.Arg1069Trp)Likely pathogenic
Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism|not provided|Leukodystrophy
β˜…β˜…β˜†β˜†2026β†’ Residue 1069
NM_007055.4(POLR3A):c.2422C>T (p.Arg808Ter)Pathogenic
not provided|Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism
β˜…β˜…β˜†β˜†2026β†’ Residue 808
NM_007055.4(POLR3A):c.1909+22G>APathogenic
not provided|Neonatal pseudo-hydrocephalic progeroid syndrome|Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism|POLR3A-related neurological disorders|not specified|POLR3A-related disorder|Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism;Neonatal pseudo-hydrocephalic progeroid syndrome;Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism|Inborn genetic diseases|POLR-related leukodystrophy|Spastic ataxia|Movement disorder|Hereditary ataxia|Autosomal recessive POLR3A-related disorders
β˜…β˜…β˜†β˜†2026
NM_007055.4(POLR3A):c.1771-6C>GPathogenic
Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism|not provided|Inborn genetic diseases|Neonatal pseudo-hydrocephalic progeroid syndrome;Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism|Ovarian serous cystadenocarcinoma|Neonatal pseudo-hydrocephalic progeroid syndrome
β˜…β˜…β˜†β˜†2026
NM_007055.4(POLR3A):c.2617-1G>APathogenic
Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism|not provided|Neonatal pseudo-hydrocephalic progeroid syndrome|Leukodystrophy|Acute myeloid leukemia
β˜…β˜…β˜†β˜†2026
NM_007055.4(POLR3A):c.760C>T (p.Arg254Ter)Pathogenic
Neonatal pseudo-hydrocephalic progeroid syndrome|not provided|Wiedemann-Rautenstrauch-like progeroid syndrome|Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism;Neonatal pseudo-hydrocephalic progeroid syndrome;Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism|Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism|POLR-related leukodystrophy
β˜…β˜…β˜†β˜†2025β†’ Residue 254
NM_007055.4(POLR3A):c.2005C>T (p.Arg669Ter)Pathogenic
not provided|Neonatal pseudo-hydrocephalic progeroid syndrome|Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism|Hereditary ataxia
β˜…β˜…β˜†β˜†2025β†’ Residue 669
NM_007055.4(POLR3A):c.3013C>T (p.Arg1005Cys)Pathogenic
Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism|Neonatal pseudo-hydrocephalic progeroid syndrome|not provided|Leukodystrophy
β˜…β˜…β˜†β˜†2025β†’ Residue 1005
NM_007055.4(POLR3A):c.1771-7C>GPathogenic
not provided|Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism|Neonatal pseudo-hydrocephalic progeroid syndrome|POLR-related leukodystrophy|POLR3A-related disorder|Adult onset hereditary spastic paraplegia|Intellectual disability
β˜…β˜…β˜†β˜†2025
NM_007055.4(POLR3A):c.2554A>G (p.Met852Val)Pathogenic
Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism|not provided|Leukodystrophy
β˜…β˜…β˜†β˜†2025β†’ Residue 852
NM_007055.4(POLR3A):c.1572+1G>APathogenic
Neonatal pseudo-hydrocephalic progeroid syndrome|not provided|Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism
β˜…β˜…β˜†β˜†2025
NM_007055.4(POLR3A):c.3951dup (p.Leu1318fs)Pathogenic
not provided|POLR-related leukodystrophy
β˜…β˜…β˜†β˜†2025β†’ Residue 1318
NM_007055.4(POLR3A):c.601del (p.Ile201fs)Pathogenic
Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism|not provided|POLR-related leukodystrophy
β˜…β˜…β˜†β˜†2025β†’ Residue 201
NM_007055.4(POLR3A):c.1909+18G>APathogenic
Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism|not provided|Neonatal pseudo-hydrocephalic progeroid syndrome|Cervical cancer
β˜…β˜…β˜†β˜†2025
NM_007055.4(POLR3A):c.2011T>C (p.Trp671Arg)Likely pathogenic
Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 671
NM_007055.4(POLR3A):c.3115C>T (p.Gln1039Ter)Pathogenic
Leukodystrophy|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 1039
NM_007055.4(POLR3A):c.1048+5G>TPathogenic
Neonatal pseudo-hydrocephalic progeroid syndrome|Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism|not provided|Autosomal recessive POLR3A-related disorders
β˜…β˜…β˜†β˜†2025
NM_007055.4(POLR3A):c.1784G>A (p.Trp595Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 595
NM_007055.4(POLR3A):c.685C>T (p.Arg229Ter)Pathogenic
not provided|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 229
NM_007055.4(POLR3A):c.3583del (p.Asp1195fs)Pathogenic
Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism|not provided|POLR3A-related disorder|Autosomal recessive POLR3A-related disorders
β˜…β˜…β˜†β˜†2025β†’ Residue 1195
View on ClinVar β†—
Drug Targets1
TAS-106Phase II
DNA-directed RNA polymerase III subunit RPC1 inhibitor
head and neck malignant neoplasia
Related Genes
BDP1Protein interaction100%OATProtein interaction98%RPS3Protein interaction98%TBPProtein interaction98%RPS15Protein interaction98%RPS18Protein interaction98%
Tissue Expression6 tissues
Brain
100%
Ovary
62%
Heart
58%
Liver
56%
Lung
49%
Bone Marrow
34%
Gene Interaction Network
Click a node to explore
POLR3ABDP1OATRPS3TBPRPS15RPS18
PROTEIN STRUCTURE
Preparing viewer…
PDB7AE1 Β· 2.80 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.84LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.70 [0.59–0.84]
RankingsWhere POLR3A stands among ~20K protein-coding genes
  • #3,496of 20,598
    Most Researched133 Β· top quartile
  • #588of 5,498
    Most Pathogenic Variants132 Β· top quartile
  • #7,167of 17,882
    Most Constrained (LOEUF)0.84
Genes detectedPOLR3A
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.
PMID: 28459997
Brain Β· 2017
1.00
2
Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.
PMID: 25339210
Neurology Β· 2014
0.90
3
PMID: 22855961
0.80
4
Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization.
PMID: 35012964
Neurology Β· 2022
0.70
5
RNA Polymerase III Subunit Mutations in Genetic Diseases.
PMID: 34395528
Front Mol Biosci Β· 2021
0.60