Immunogen sequence: EAKRGKTRAE TMGPMGWMKC PLASTNKRFL INTIKNTLPS HKEQDHEQKE GDKEPAKSQA QKEENPKKHR SHPYKHSFRA RGSASYSPPR KRSSQDKYEK RS
Highest antigen sequence identity to the following orthologs: Mouse - 77%, Rat - 80%.
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.
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Protein Aliases: AC19; DNA-directed RNA polymerase I subunit D; DNA-directed RNA polymerases I and III subunit RPAC2; hRPA19; POLR1C; polymerase (RNA) I polypeptide D; polymerase (RNA) I polypeptide D, 16kDa; polymerase (RNA) I subunit D; Protein POLR1D, isoform 2; RNA polymerase I 16 kDa subunit; RNA polymerases I and III subunit AC2; RPA16; RPA9; RPAC2; RPC16; RPO1-3; TCS2
Gene Aliases: AC19; POLR1C; POLR1D; RPA16; RPA9; RPAC2; RPC16; RPO1-3; TCS2
UniProt ID: (Human) P0DPB5
Entrez Gene ID: (Human) 51082