polr1d
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  • Official Full Name
  • polymerase (RNA) I polypeptide D, 16kDa
  • Background
  • 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.
  • Synonyms
  • POLR1D; polymerase (RNA) I polypeptide D, 16kDa; DNA-directed RNA polymerases I and III subunit RPAC2; MGC9850; RPA9; RPA16; RPAC2; RPO1 3; FLJ20616; POLR1C; AC19; DNA directed RNA polymerase I 16 kDa polypeptide; DNA directed RNA polymerase I subunit D; DNA directed RNA polymerases I and III subunit RPAC2; DNA-directed RNA polymerase I subunit D; hRPA19; Polymerase (RNA) I polypeptide D; RNA polymerase I 16 kDa subunit; RNA polymerases I and III subunit AC2; RPAC2_HUMAN; RPC16; OTTHUMP00000018172; TCS2; RPO1-3
Cat.#:POLR1D-1839HTag:GST
Source (Host):E. coliSpecies:Human
Product nameRecombinant Human POLR1D, GST-tagged
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Cat.#:POLR1D-13089MTag:His
Source (Host):Mammalian CellsSpecies:Mouse
Product nameRecombinant Mouse POLR1D Protein
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Cat.#:POLR1D-3512RTag:His
Source (Host):Mammalian CellsSpecies:Rhesus Macaque
Product nameRecombinant Rhesus monkey POLR1D Protein, His-tagged
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Cat.#:POLR1D-1175ZTag:His
Source (Host):Mammalian CellsSpecies:Zebrafish
Product nameRecombinant Zebrafish POLR1D
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Cat.#:POLR1D-3039HCLTag:
Source (Host):Species:Human
Product nameRecombinant Human POLR1D 293 Cell Lysate
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Cat.#:POLR1D-3040HCLTag:
Source (Host):Species:Human
Product nameRecombinant Human POLR1D 293 Cell Lysate
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POLR1D Related Articles

Giampietro, PF; Armstrong, L; et al. Whole Exome Sequencing Identifies a POLRID Mutation Segregating in a Father and Two Daughters with Findings of Klippel-Feil and Treacher Collins Syndromes. AMERICAN JOURNAL OF MEDICAL GENETICS PART A 167A:95-102(2015).
Schaefer, E; Collet, C; et al. Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome. GENETICS IN MEDICINE 16:720-724(2014).