Regulator of telomere elongation helicase 1 is a protein that in humans is encoded by the RTEL1 gene.
Gene Read-through transcription of the RTEL1 gene into the neighboring downstream TNFRSF6B gene, which encodes tumor necrosis factor receptor superfamily, member 6b, generates a non-coding transcript. Alternative splicing results in multiple transcript variants encoding different isoforms.
Function This gene encodes a DNA helicase which functions in the stability, protection and elongation of telomeres and interacts with proteins in the shelterin complex known to protect telomeres during DNA replication.
Clinical significance Mutations in this gene have been associated with dyskeratosis congenita and Hoyeraal–Hreidarsson syndrome.
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This article incorporates text from the United States National Library of Medicine, which is in the public domain.