1 | POLR1C, POLR3A, POLR3B, POLR3K |
POLR3-related leukodystrophy: How do mutations affecting RNA polymerase III subunits cause hypomyelination? | |
Coulombe B, Derksen A, La Piana R, Brais B, Gauthier MS, Bernard G. | |
Fac Rev. Feb 5;10:12. doi: 10.12703/r/10-12. 2021 | |
2 | HLD21, POLR3K |
Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation | |
Dorboz I, Dumay-Odelot H, Boussaid K, Bouyacoub Y, Barreau P, Samaan S, Jmel H, Eymard-Pierre E, Cances C, Bar C, Poulat AL, Rousselle C, Renaldo F, Elmaleh-Bergès M, Teichmann M, Boespflug-Tanguy O. | |
Neurol Genet. Dec 3;4(6):e289. doi: 10.1212/NXG.0000000000000289. 2018 | |
3 | ATR16, CRAMP1L, DDX11L1, DECR2, GNG13, HAGHL, HBAP1, HBM, HN1L, HS3ST6, IFT140, IGFALS, ITFG3, JMJD8, LMF1, LUC7L, MEIOB, MRPL28, MSLNL, NARFL, POLR3K, RAB40C, RHBDL1, RPL23AP5, RPS20P2, RPS3AP2, RPUSD1, SEPX1, SPSB3, TJP1P, TMEM8, TPSB2, TPSD1, TPSG1, TPSP1, TPSP3, UNKL, WFIKKN1, ZSIG37P |
Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16. | |
Daniels RJ, Peden JF, Lloyd C, Horsley SW, Clark K, Tufarelli C, Kearney L, Buckle VJ, Doggett NA, Flint J, Higgs DR. | |
Hum Mol Genet 10(4):339-52. 2001 | |
4 | POLR3K |
The RNA cleavage activity of RNA polymerase III is mediated by an essential TFIIS-like subunit and is important for transcription termination. | |
Chedin S, Riva M, Schultz P, Sentenac A, Carles C. | |
Genes Dev 12(24):3857-71. 1998 | |