Aliases for RTEL1 Gene
External Ids for RTEL1 Gene
Previous HGNC Symbols for RTEL1 Gene
Previous GeneCards Identifiers for RTEL1 Gene
This gene encodes a DNA helicase which functions in the stability, protection and elongation of telomeres and interacts with proteins in the shelterin complex known to protect telomeres during DNA replication. Mutations in this gene have been associated with dyskeratosis congenita and Hoyerall-Hreidarsson syndrome. Read-through transcription of this gene into the neighboring downstream gene, which encodes tumor necrosis factor receptor superfamily, member 6b, generates a non-coding transcript. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2013]
GeneCards Summary for RTEL1 Gene
RTEL1 (Regulator Of Telomere Elongation Helicase 1) is a Protein Coding gene. Diseases associated with RTEL1 include pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 and dyskeratosis congenita, autosomal recessive 5. Among its related pathways are Metabolism and Cytosolic iron-sulfur cluster assembly. GO annotations related to this gene include nucleic acid binding and ATP-dependent helicase activity. An important paralog of this gene is BRIP1.
UniProtKB/Swiss-Prot for RTEL1 Gene
ATP-dependent DNA helicase implicated in telomere-length regulation, DNA repair and the maintenance of genomic stability. Acts as an anti-recombinase to counteract toxic recombination and limit crossover during meiosis. Regulates meiotic recombination and crossover homeostasis by physically dissociating strand invasion events and thereby promotes noncrossover repair by meiotic synthesis dependent strand annealing (SDSA) as well as disassembly of D loop recombination intermediates. Also disassembles T loops and prevents telomere fragility by counteracting telomeric G4-DNA structures, which together ensure the dynamics and stability of the telomere.