3'-5' RNA exonuclease that trims the 3' end of oligo(U) and oligo(A) tracts of the pre-U6 small nuclear RNA (snRNA) molecule, leading to the formation of a mature U6 snRNA 3' end-terminated with a 2',3'-cyclic phosphate (PubMed:22899009, PubMed:23022480, PubMed:23190533, PubMed:26213367, PubMed:28887445, PubMed:30215753, PubMed:31832688). Participates in the U6 snRNA 3' end processing that prevents U6 snRNA degradation (PubMed:22899009, PubMed:23022480, PubMed:23190533, PubMed:26213367, PubMed:28887445, PubMed:30215753, PubMed:31832688). In addition also removes uridines from the 3' end of U6atac snRNA and possibly the vault RNA VTRNA1-1 (PubMed:26213367).
Poikiloderma with neutropenia
PN
A genodermatosis characterized by poikiloderma, pachyonychia and chronic neutropenia. The disorder starts as a papular erythematous rash on the limbs during the first year of life. It gradually spreads centripetally and, as the papular rash resolves, hypo- and hyperpigmentation result, with development of telangiectasias. Another skin manifestation is pachyonychia, but alopecia and leukoplakia are distinctively absent. Patients have recurrent pneumonias that usually result in reactive airway disease and/or chronic cough. One of the most important extracutaneous symptoms is an increased susceptibility to infections, mainly affecting the respiratory system, primarily due to a chronic neutropenia and to neutrophil functional defects. Bone marrow abnormalities account for neutropenia and may evolve into myelodysplasia associated with the risk of leukemic transformation. Poikiloderma with neutropenia shows phenotypic overlap with Rothmund-Thomson syndrome.
None
The disease is caused by variants affecting the gene represented in this entry.
Belongs to the 2H phosphoesterase superfamily. USB1 family.
C16orf57, Mpn1, USB1, U6 snRNA phosphodiesterase 1, hUsb1, 3'-5' RNA exonuclease USB1, Mutated in poikiloderma with neutropenia protein 1, Mutated in PN protein 1, hMpn1
Proteins
30268Da
We found 1 product in 1 category