Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | O95453 | - |
- |
Synonyms | Comment | Organism |
---|---|---|
PARN | - |
Homo sapiens |
General Information | Comment | Organism |
---|---|---|
malfunction | mutations in the PARN gene (encoding poly(A)-specific ribonuclease) cause telomere diseases including familial idiopathic pulmonary fibrosis and dyskeratosis congenita. PARN deficiency impairs telomere maintenance. Mechanism linking PARN mutations to telomere diseases, phenotype analysis, overview | Homo sapiens |
physiological function | poly(A)-specific ribonuclease (PARN) mediates 3'-end maturation of the telomerase RNA component. PARN is required for removal of post-transcriptionally acquired oligo(A) tails that target nuclear RNAs for degradation. Diminished TERC levels and the increased proportion of oligo(A) forms of TERC are normalized by restoring PARN, which is limiting for TERC maturation in cells. Role for PARN in the biogenesis of TERC. TERC serves as the RNA template and scaffold for the telomerxadase reverse-transcriptase holoenzyme | Homo sapiens |