Gene Symbol | POLR1D |
Entrez Gene ID | 51082 |
Full Name | RNA polymerase I subunit D |
Synonyms | AC19,POLR1C,RPA16,RPA9,RPAC2,RPC16,RPO1-3,TCS2 |
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 component of the RNA polymerase I and RNA polymerase III complexes, which function in the synthesis of ribosomal RNA precursors and small RNAs, respectively. Mutations in this gene are a cause of Treacher Collins syndrome (TCS), a craniofacial development disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2011]. |
Disorder MIM: | |
Disorder Html: | Treacher Collins syndrome 2, 613717 (3) |