Gene Symbol | POLR1C |
Entrez Gene ID | 9533 |
Full Name | RNA polymerase I subunit C |
Synonyms | AC40,HLD11,RPA39,RPA40,RPA5,RPAC1,RPC40,TCS3 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The protein encoded by this gene is a subunit of both RNA polymerase I and RNA polymerase III complexes. The encoded protein is part of the Pol core element. Mutations in this gene have been associated with Treacher Collins syndrome (TCS) and hypomyelinating leukodystrophy 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]. |
Disorder MIM: | |
Disorder Html: | Treacher Collins syndrome 3, 248390 (3); Leukodystrophy, hypomyelinating, 11, 616494 (3) |