| Modification Notes |
RTEL1 (regulator of telomere elongation helicase 1), also known as C20orf41, KIAA1088 or NHL, is a 1,400 amino acid nuclear protein that contains one helicase ATP-binding domain and belongs to the helicase family of DNA-binding proteins. In mice, RTEL1 is required for telemore elongation and is an important regulator of chromosome stability. Human RTEL1 is highly expressed in kidney and intestine and, existing as a functional ortholog of its mouse counterpart, is thought to act as an ATP-dependent helicase that may regulate chromosome function and genomic stability. The gene encoding RTEL1 maps to a gene-rich cluster on chromosome 20 that is thought to house a number of tumor-related genes, suggesting that RTEL1 may play a role in tumorigenesis. Multiple isoforms of RTEL1 exist due to alternative splicing events. |