RTEL1
Description
The RTEL1 (regulator of telomere elongation helicase 1) is a protein-coding gene located on chromosome 20.
RTEL1 is an ATP-dependent DNA helicase that plays a crucial role in regulating telomere length, DNA repair, and maintaining genomic stability. It acts as an anti-recombinase to suppress harmful recombination events and limit crossovers during meiosis. RTEL1 controls meiotic recombination and crossover balance by physically separating strand invasion events, promoting noncrossover repair through meiotic synthesis-dependent strand annealing (SDSA) and dismantling D-loop recombination intermediates. Additionally, RTEL1 disassembles T-loops and prevents telomere fragility by counteracting telomeric G4-DNA structures, ensuring the dynamic stability of the telomere.
RTEL1 is also known as C20orf41, DKCA4, DKCB5, NHL, PFBMFT3, RTEL.
Associated Diseases
- Dyskeratosis congenita, autosomal recessive 5
- Hoyeraal-Hreidarsson syndrome
- Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3
- Dyskeratosis congenita
- Idiopathic pulmonary fibrosis
