Regulator of telomere elongation helicase 1 (RTEL1)

Regulator of telomere elongation helicase 1 (RTEL1) is an essential DNA helicase of the XPD family involved in the maintenance of telomere length and genome stability[2][5]. RTEL1 plays a critical role in resolving secondary DNA structures such as G-quadruplexes and t-loops at telomeres, facilitating telomere extension by telomerase, and supporting DNA replication and repair in both telomeric and nontelomeric regions[1][2][6]. Mutations in the RTEL1 gene cause telomere-related disorders such as Hoyeraal-Hreidarsson syndrome, characterized by accelerated telomere shortening, bone marrow failure, immunodeficiency, and developmental defects[1][3]. RTEL1 is also implicated in the pathogenesis of certain cancers and other diseases associated with genomic instability and defective telomere maintenance[5][6]. Experimental data show that expression levels of RTEL1 must be finely regulated; excess expression can be toxic to cells, likely due to disruption of telomere homeostasis[1][3]. No known drugs currently target RTEL1 directly, but its function may be relevant in the context of telomere biology-focused therapies and as a biomarker for telomere syndromes.

Other names

C20orf41KIAA1088Novel helicase-likeNHLDKFZP434C013DKCA4DKCB5PFBMFT3regulator of telomere elongation helicase 1regulator of telomere length