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.
Immunogen Information
Immunogen
Fusion protein of human POLR1D
Swissprot
Q9Y2S0
Synonyms
AC19DNA directed RNA polymerase I 16 kDa polypeptideDNA directed RNA polymerase I subunit DDNA directed RNA polymerases I and III subunit RPAC2DNA-directed RNA polymerase I subunit DDNA-directed RNA polymerases I and III subunit RPAC2FLJ20616hRPA19