DISEASES

Disease-gene associations mined from literature

Literature associating RTEL1 and vestibulocochlear nerve disease

RTEL1 [ENSP00000353332]

Regulator of telomere elongation helicase 1; 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; Belongs to the helicase family. RAD3/XPD subfamily.

Synonyms:  RTEL1,  RTEL1p,  hRTEL1,  Q9NZ71,  X6R5I7 ...

Linkouts:  STRING  Pharos  UniProt