POLR3B
| POLR3B | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | POLR3B, C128, HLD8, INMAP, RPC2, polymerase (RNA) III subunit B, RNA polymerase III subunit B, CMT1I | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 614366; MGI: 1917678; HomoloGene: 6981; GeneCards: POLR3B; OMA:POLR3B - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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RNA polymerase III subunit B is an enzyme that in humans is encoded by the POLR3B gene. It is the second largest subunit of RNA polymerase III.[5] Subunit B is part of the catalytic center of the RNA polymerase III complex.[6]
Gene
[edit]The POLR3B gene is located on the long arm (q) of chromosome 12 on position 23.3, from base pair from base pair 106,357,748 to base pair 106,510,198.[7]
Function
[edit]RNA polymerase III is an essential enzyme complex responsible for synthesizing small non-coding RNAs, including transfer RNAs (tRNAs) and 5S ribosomal RNA (rRNA) and these small RNAs play a critical role in the process of protein synthesis within cells.[8]
Clinical significance
[edit]Mutations in POLR3B are associated with certain genetic disorders, such as 4H leukodystrophy and Charcot–Marie–Tooth disease type 1I.[8][9]
References
[edit]- 1 2 3 GRCh38: Ensembl release 89: ENSG00000013503 – Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000034453 – 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.
- ↑ "POLYMERASE III, RNA, SUBUNIT B; POLR3B". omim.org.
- ↑ Watt KE, Macintosh J, Bernard G, Trainor PA (February 2023). "RNA Polymerases I and III in development and disease". Seminars in Cell & Developmental Biology. 136: 49–63. doi:10.1016/j.semcdb.2022.03.027. PMC 9550887. PMID 35422389.
- ↑ "POLR3B RNA polymerase III subunit B [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2025-07-31.
- 1 2 "POLR3B gene: MedlinePlus Genetics". MedlinePlus. U.S. National Library of Medicine.
- ↑ Lata E, Choquet K, Sagliocco F, Brais B, Bernard G, Teichmann M (2021). "RNA Polymerase III Subunit Mutations in Genetic Diseases". Frontiers in Molecular Biosciences. 8 696438. doi:10.3389/fmolb.2021.696438. PMC 8362101. PMID 34395528.