Regulator Of Telomere Elongation Helicase 1 (RTEL1)

In mice, inactivation of the Rtel (regulator of telomere length) gene has been shown to cause chromosome breaks, fusions, and telomere loss. In addition, Rtel is required for telomere elongation. Therefore, the mouse Rtel gene regulates chromosome stability and telomere length. This gene is the human ortholog of the mouse Rtel gene, so its protein product may play similar roles in humans. It is located in a gene-rich cluster on chromosome 20, with other potential tumor-related genes, such as TNFRSF6B. Multiple transcript variants encoding different isoforms have been described for this gene, although the full-length nature of not all variants is known. The predicted 1,219-amino acid NHL protein shares 26% identity with the RAD3/ERCC2 family of DNA helicases. The 7 domains characteristic of helicases are highly conserved in NHL.