RTEL1 Products

Description

RTEL1 (Regulator of Telomere Length 1) is a nuclear iron-sulfur cluster containing ATP-dependent DNA helicase essential to genomic stability. RTEL1 contains 1 helicase ATP-binding domain and it belongs to helicase family, RAD3/XPD subfamily. Originally discovered in mouse, RTEL1 is a dominant factor controlling the regulation of telomeric length and genomic integrity, and recent evidence suggest that RTEL1 is preferentially recruited to, or exerts greater activity at genome's G-rich regions. In DNA double-strand breaks (DSBs) repair, RTEL1 disrupts D-loops in vitro and promotes synthesis-dependent strand annealing (SDSA) in vivo to direct DNA DSBs into non-crossover outcomes during mitotic repair. RTEL1 activity is also essential to meiotic recombination regulation as shown in C elegans. RTEL1's multiple roles in genomic stability maintenance and recombination regulation suggests it as a tumor suppressor. Indeed, RTEL1 mutation represents a risk factor for glioma and it is overexpressed in gastrointestinal cancers. Human RTEL1 deficiency caused Hoyeraal-Hreidarsson syndrome (HHS), a severe variant of Dyskeratosis Congenita (DC), characterized by early onset bone marrow failure, immunodeficiency and developmental defects.

Bioinformatics

Entrez	51750 Human
Uniprot	Q9NZ71 Human
Product By Gene ID	51750
Alternate Names	C20orf41 regulator of telomere elongation helicase 1 regulator of telomere length

Research Areas for RTEL1

Find related products by research area and learn more about each of the different research areas below.

Cancer
DNA Repair