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The protein encoded by POLR1D 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. Additionally we are shipping Polymerase (RNA) I Polypeptide D, 16kDa Antibodies (25) and many more products for this protein.
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We report a clinical and extensive molecular study, including TCOF1 (show TCOF1 Proteins), POLR1D, POLR1C (show POLR1C Proteins), and EFTUD2 (show EFTUD2 Proteins) genes, in a series of 146 patients with TCS.
Whole exome sequencing identified a nonsynonymous mutation in POLR1D (subunit of RNA polymerase I (show POLR1C Proteins) and II): exon2:c.T332C:p.L111P.
Autosomal recessive POLR1D mutation with decrease of TCOF1 (show TCOF1 Proteins) mRNA is responsible for Treacher Collins syndrome.
Mutations in TCOF1 (show TCOF1 Proteins), POLR1C (show POLR1C Proteins) and POLR1D have all been implicated in causing TCS
heterozygous mutations of POLR1D in 252 individuals with Treacher Collins syndrome
analyzed the kinetics of assembly and elongation of the RNA polymerase I (show POLR1C Proteins) complex on endogenous ribosomal genes in the nuclei of living cells with the use of in vivo microscopy
Our work therefore has uncovered tissue-specific roles for polr1c (show POLR1C Proteins) and polr1d in rRNA transcription, ribosome biogenesis, and neural crest and craniofacial development during embryogenesis.
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.
DNA-directed RNA polymerase I subunit D
, DNA-directed RNA polymerases I and III subunit RPAC2
, RNA polymerases I and III subunit AC2
, DNA-directed RNA polymerase I 16 kDa polypeptide
, RNA polymerase 1-3
, polymerase (RNA) I polypeptide D, 16kDa
, RNA polymerase I polypeptide D
, polymerase (RNA) I subunit D
, polymerase (RNA) I polypeptide D