POLR3B RNA polymerase III subunit B
Gene ID: 55703, updated on 17-Jun-2024Gene type: protein coding
Also known as: C128; HLD8; RPC2; CMT1I; INMAP
- See all available tests in GTR for this gene
- Go to complete Gene record for POLR3B
- Go to Variation Viewer for POLR3B variants
Summary
This gene encodes the second largest subunit of RNA polymerase III, the polymerase responsible for synthesizing transfer and small ribosomal RNAs in eukaryotes. The largest subunit and the encoded protein form the catalytic center of RNA polymerase III. Mutations in this gene are a cause of hypomyelinating leukodystrophy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Charcot-Marie-Tooth disease, demyelinating, IIA 1I | See labs |
| Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study. GeneReviews: Not available | |
| Genome-wide association study of Tourette's syndrome. GeneReviews: Not available | |
| Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases. GeneReviews: Not available | |
| Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism MedGen: C3280644OMIM: 614381GeneReviews: Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency, POLR3-Related Leukodystrophy | See labs |
| Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | See labs |
Genomic context
- Location:
- 12q23.3
- Sequence:
- Chromosome: 12; NC_000012.12 (106357748..106510198)
- Total number of exons:
- 30
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for POLR3B variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- POLR3B @ LOVD
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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