POLR1C Rabbit pAb

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. Synonyma: AC40, RPA5, TCS3, HLD11, RPA39, RPA40, RPAC1, RPC40, POLR1C