PTRF, Antibody

For Research Use Only. Not for use in diagnostic procedures.

Rabbit

1.0mg/ml (lot specific)

Small volumes of anti-PTRF antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

Western Blot (WB)

22,597 Da

polymerase I and transcript release factor

polymerase I and transcript release factor

Polymerase I and transcript release factor

This gene encodes a protein that enables the dissociation of paused ternary polymerase I transcription complexes from the 3' end of pre-rRNA transcripts. This protein regulates rRNA transcription by promoting the dissociation of transcription complexes and the reinitiation of polymerase I on nascent rRNA transcripts. This protein also localizes to caveolae at the plasma membrane and is thought to play a critical role in the formation of caveolae and the stabilization of caveolins. This protein translocates from caveolae to the cytoplasm after insulin stimulation. Caveolae contain truncated forms of this protein and may be the site of phosphorylation-dependent proteolysis. This protein is also thought to modify lipid metabolism and insulin-regulated gene expression. Mutations in this gene result in a disorder characterized by generalized lipodystrophy and muscular dystrophy. [provided by RefSeq, Nov 2009]

PTRF: Plays an important role in caveolae formation and organization. Required for the sequestration of mobile caveolin into immobile caveolae. Termination of transcription by RNA polymerase I involves pausing of transcription by TTF1, and the dissociation of the transcription complex, releasing pre-rRNA and RNA polymerase I from the template. PTRF is required for dissociation of the ternary transcription complex. Defects in PTRF are the cause of congenital generalized lipodystrophy type 4 (CGL4). It is a disorder characterized by the association of congenital generalized lipodystrophy with muscular dystrophy and cardiac anomalies. Congenital generalized lipodystrophy is characterized by a near complete absence of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes. Belongs to the PTRF/SDPR family. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Transcription initiation complex

Chromosomal Location of Human Ortholog: 17q21.2

Cellular Component: caveola; cytoplasm; lipid raft; mitochondrion; nucleoplasm; nucleus; protein complex

Molecular Function: protein binding; rRNA primary transcript binding

Biological Process: termination of RNA polymerase I transcription; transcription initiation from RNA polymerase I promoter

Disease: Lipodystrophy, Congenital Generalized, Type 4

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