PTRF Antibody – Rabbit Polyclonal

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: nucleoplasm; protein complex; mitochondrion; intracellular membrane-bound organelle; endoplasmic reticulum; cytoplasm; plasma membrane; caveola; cytosol; nucleus

Molecular Function: protein binding; rRNA primary transcript binding

Biological Process: regulation of transcription, DNA-dependent; transcription from RNA polymerase I promoter; gene expression; termination of RNA polymerase I transcription; transcription initiation from RNA polymerase I promoter

Disease: Lipodystrophy, Congenital Generalized, Type 4