POLR1D 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. POLR1D (RNA Polymerase I Subunit D) is a Protein Coding gene. Diseases associated with POLR1D include Treacher Collins Syndrome 2 and Polr1d-Related Treacher Collins Syndrome. Among its related pathways are Pyrimidine metabolism (KEGG) and RNA Polymerase III Transcription Initiation.
Optimal working dilutions should be determined experimentally by the investigator. Suggested starting dilutions are as follows: WB 1:500-2000 ELISA 1:5000-20000.
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