| Primary Identifier | IPR030845 | Type | Family |
| Short Name | RTEL1 |
| description | Regulator of telomere elongation helicase 1 (RTEL1) is a animal functional analogue of yeast Srs2, which is a DNA helicase and DNA-dependent ATPase involved in DNA repair and checkpoint recovery []. RTEL1 is an essential DNA helicase that disassembles a variety of DNA secondary structures to facilitate DNA replication, repair, and recombination processes, and to maintain telomere integrity [, , ]. It is recruited by Trf2 to telomeres in S phase to promote T-Loop unwinding []. It is also required for the export and the correct cytoplasmic trafficking of the small nuclear (sn) RNA pre-U2, a component of themajor spliceosome complex []. Constitutional mutations in the RTEL1 gene cause Hoyeraal-Hreidarsson syndrome (HHS), a severe form of Dyskeratosis congenita characterised by developmental defects, bone marrow failure and immunodeficiency and has been associated with telomere dysfunction [, ]. |
