Gene Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@jax.org

Gene Symbol RTEL1
Synonyms C20orf41 | DKCA4 | DKCB5 | NHL | PFBMFT3 | RTEL
Gene Description RTEL1, regulator of telomere elongation helicase 1, is a DNA helicase (PMID: 24582487) that plays a role in homologous recombination (PMID: 18957201), telomere maintenance (PMID: 23959892, PMID: 22593209), and DNA replication (PMID: 32398829, PMID: 32398827). RTEL1 mutations have been identified in familial breast cancer (PMID: 30303537) and myeloid neoplasms (PMID: 29344583).
Additional content available in CKB BOOST