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Gene

POLR3A

RNA polymerase III subunit A

Summary

Cytogenetic location
10q22.3
Coordinates
Chromosome 10: 77,975,149–78,029,515 (GRCh38)
Exons
31 exons across 54.4 kb
Protein
1,390 amino acids
Inheritance
Autosomal recessive
Also known as
RPC1, RPC155, hRPC155, C160
MANE Select transcript
ENST00000372371.8NM_007055.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Osteogenesis Imperfecta

    • A group of inherited connective tissue disorders causing fragile bones that break easily, often with blue sclerae, hearing loss and dental problems.

      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

      Cyclic IV bisphosphonates (pamidronate, zoledronate); orthopedic rodding of long bones; physical therapy; denosumab (in clinical use for pediatric OI); romosozumab (in development); hearing monitoring; dental management for dentinogenesis imperfecta

  • Pelizaeus-Merzbacher Disease & Hypomyelinating Leukodystrophies

    • POLR3-related (4H) leukodystrophyAutosomal recessive

      Changes in POLR3A, POLR3B, POLR1C or POLR3K cause hypomyelination with problems of balance and coordination, often with dental anomalies and delayed puberty (hypomyelination, hypodontia and hypogonadotropic hypogonadism).

      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

      Diagnosis allows monitoring of dental development and puberty, and hormone treatment where needed.

Broader groupings

  • Other Inherited Leukodystrophies

    • Leukodystrophy (other and unspecified types)

      One of 80 genes linked to it

      Inherited conditions that damage or prevent the normal formation of myelin, the white matter of the brain and spinal cord. Different types follow autosomal recessive, autosomal dominant or X-linked inheritance depending on the gene involved.

      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing the specific genetic cause can end a diagnostic search, guide supportive care and surveillance, show whether a specific treatment exists, and allow testing of relatives.

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How POLR3A is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 10, with a bracket where POLR3A sits. POLR3A and 3 genes near it on chromosome 10, from 77,502,332 to 78,502,331.Chromosome 1010q22.3p15.3p15.2p15.1p14p13p12.33p12.32p12.31p12.2p12.1p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.31q23.32q23.33q24.1q24.2q24.31q24.32q24.33q25.1q25.2q25.3q26.11q26.12q26.13q26.2q26.377.6 Mb77.8 Mb78 Mb78.2 Mb78.4 MbKCNMA1: 76,869,601–77,638,908, reverse strandKCNMA1DLG5: 77,790,778–77,927,220, reverse strandDLG5POLR3A: 77,975,149–78,029,515, reverse strandPOLR3ARPS24: 78,033,723–78,056,813, forward strandRPS24Diagram of POLR3A: 31 exons on the reverse strand of chromosome 10Exon 31: 2 known disease-causing sitesExon 30: 4 known disease-causing sitesExon 29: 4 known disease-causing sitesExon 28: 6 known disease-causing sitesExon 27: 1 known disease-causing siteExon 26: 2 known disease-causing sitesExon 25: 1 known disease-causing siteExon 24: 4 known disease-causing sitesExon 23: 3 known disease-causing sitesExon 22: 1 known disease-causing siteExon 21: 2 known disease-causing sitesExon 20: 7 known disease-causing sitesExon 19: 2 known disease-causing sitesExon 18: 3 known disease-causing sitesExon 17: 2 known disease-causing sitesExon 16: 7 known disease-causing sitesExon 15: 5 known disease-causing sitesExon 14: 3 known disease-causing sitesExon 13: 3 known disease-causing sitesExon 10: 5 known disease-causing sitesExon 8: 3 known disease-causing sitesExon 7: 1 known disease-causing siteExon 6: 1 known disease-causing siteExon 5: 4 known disease-causing sitesExon 4: 1 known disease-causing siteExon 3: 2 known disease-causing sitesExon 2: 3 known disease-causing sitesExon 1: 2 known disease-causing sitesExon 31: 77,975,149–77,977,626, 2,478 basesExon 30: 77,980,141–77,980,273, 133 basesExon 29: 77,981,428–77,981,559, 132 basesExon 28: 77,982,154–77,982,318, 165 basesExon 27: 77,982,653–77,982,817, 165 basesExon 26: 77,983,920–77,984,012, 93 basesExon 25: 77,984,205–77,984,298, 94 basesExon 24: 77,985,170–77,985,340, 171 basesExon 23: 77,985,903–77,985,985, 83 basesExon 22: 77,986,073–77,986,159, 87 basesExon 21: 77,991,054–77,991,167, 114 basesExon 20: 77,993,197–77,993,367, 171 basesExon 19: 77,999,981–78,000,118, 138 basesExon 18: 78,000,976–78,001,094, 119 basesExon 17: 78,002,197–78,002,308, 112 basesExon 16: 78,004,716–78,004,888, 173 basesExon 15: 78,007,702–78,007,866, 165 basesExon 14: 78,009,537–78,009,675, 139 basesExon 13: 78,009,864–78,009,991, 128 basesExon 12: 78,010,471–78,010,540, 70 basesExon 11: 78,013,650–78,013,790, 141 basesExon 10: 78,017,575–78,017,716, 142 basesExon 9: 78,019,162–78,019,265, 104 basesExon 8: 78,021,546–78,021,682, 137 basesExon 7: 78,021,860–78,022,022, 163 basesExon 6: 78,022,145–78,022,384, 240 basesExon 5: 78,024,549–78,024,703, 155 basesExon 4: 78,024,971–78,025,142, 172 basesExon 3: 78,025,622–78,025,759, 138 basesExon 2: 78,026,094–78,026,229, 136 basesExon 1: 78,029,364–78,029,515, 152 bases313025201510515′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 6.6 kb of the gene's 54.4 kb; 4,173 of those bases code for the protein.

How a genome test reads POLR3A

101

positions in POLR3A where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 54.4 kb of POLR3A, introns included, not only the 6.6 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). POLR3A gene: RNA polymerase III subunit A. Retrieved 17 October 2026, from https://dantelabs.com/genes/polr3a

Vancouver

Dante Labs. POLR3A gene: RNA polymerase III subunit A [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/polr3a

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