gene 556 words KG: XLF 2026-03-21
kind:genesection:genesstate:published
Contents

XLF

🧬 Gene Info
Gene SymbolXLF
Functionis a human gene whose product xLF (also known as NHEJ factor X or Cernunnos) is a core DNA non-homologous end joining (NHEJ) repair protein essential for V(D)J recombination and DSB repair[@ahnesor...
GeneCardsXLF
Human Protein AtlasXLF
DNA end bridgingXLF homodimers tether blunt DNA ends together[@li2008]
V(D)J recombinationEssential for antigen receptor gene rearrangement in lymphocytes[@callebaut2006]
XRCC4-LIG4 recruitmentDirects ligase IV complex to DNA ends[@hentges2006]
Loop formationGenerates DNA loop structures facilitating repair[@lu2007]
SCID with microcephalyBiallelic XLF mutations cause severe combined immunodeficiency with growth retardation[@buck2006]
radiosensitive SCIDCellular sensitivity to ionizing radiation[@du2008]
LymphomaXLF variants in some B-cell malignancies[@liu2012]
Solid tumorsAltered expression in various cancers[@saito2011]
Alzheimer's diseaseNHEJ components dysregulated in AD neurons; impaired DSB repair[@madsen2011]
Ataxia-telangiectasiaOverlapping phenotype with ATM deficiency[@stewart2009]
Cancer therapyXLF as target for radiosensitization[@neal2015]
Associated Diseasesneurodegeneration
DatabasesGeneCardsUniProtNCBI GeneHPASTRING

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