Disease-gene associations mined from literature

Literature associating PTRF and familial partial lipodystrophy type 4

PTRF [ENSP00000349541]

Polymerase I and transcript release factor; Plays an important role in caveolae formation and organization. Essential for the formation of caveolae in all tissues. Core component of the CAVIN complex which is essential for recruitment of the complex to the caveolae in presence of calveolin-1 (CAV1). Essential for normal oligomerization of CAV1. Promotes ribosomal transcriptional activity in response to metabolic challenges in the adipocytes and plays an important role in the formation of the ribosomal transcriptional loop. Dissociates transcription complexes paused by DNA-bound TTF1, thereby releasing both RNA polymerase I and pre-RNA from the template (By similarity).

Synonyms:  PTRF,  CAVIN1,  Q6NZI2,  cavin-1,  CAVIN1p ...

Linkouts:  STRING  Pharos  UniProt  OMIM