| Full Name | Non-Homologous End Joining Factor XLF |
|---|---|
| Chromosomal Location | 2q33.1 |
| NCBI Gene ID | 79833 |
| OMIM | 611290 |
| Ensembl ID | ENSG00000151012 |
| UniProt ID | Q9H3P8 |
| Protein | XLF protein |
| Associated Diseases | Severe combined immunodeficiency (SCID) with microcephaly, Growth retardation, Cancer predisposition |
XRCC4 is 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[1]. The protein forms homodimers that bridge DNA ends and facilitates ligation by DNA-PKcs and XRCC4-LIG4 complex. Variants in XRCC4 have been implicated in Immunodeficiency, Cancer, Neurodegeneration. This page covers the gene's normal function, disease associations, expression patterns, and key research findings relevant to neurodegeneration.
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[1:1]. The protein forms homodimers that bridge DNA ends and facilitates ligation by DNA-PKcs and XRCC4-LIG4 complex.
XLF contains:
The XLF-XRCC4-LIG4 complex forms the "core" NHEJ machinery that ligates broken DNA ends[6].
XLF is expressed predominantly in:
Lower expression in:
Ahnesorg P, et al. XLF in NHEJ. Cell. 2006. ↩︎ ↩︎
Li G, et al. XLF DNA end bridging. Nat Struct Mol Biol. 2008. ↩︎
Callebaut I, et al. XLF and V(D)J recombination. Immunity. 2006. ↩︎
Hentges P, et al. XLF-XRCC4-LIG4 complex. J Cell Biol. 2006. ↩︎
Lu H, et al. XLF DNA loop formation. 2007. ↩︎
Lieber MR. NHEJ pathway. Annu Rev Biochem. 2010. ↩︎
Buck D, et al. XLF deficiency and SCID. Cell. 2006. ↩︎
Du L, et al. Radiosensitive XLF deficiency. J Clin Immunol. 2008. ↩︎
Liu X, et al. XLF in lymphoma. Blood. 2012. ↩︎
Saito S, et al. XLF in solid tumors. Oncol Rep. 2011. ↩︎
Madsen ML, et al. NHEJ in Alzheimer's disease. 2011. ↩︎
Stewart GS, et al. XLF and ATLD overlap. 2009. ↩︎
GTEx Consortium. XLF expression atlas. ↩︎
Neal JA, et al. Targeting XLF in cancer therapy. Clin Cancer Res. 2015. ↩︎
Cavazzana-Calvo M, et al. Gene therapy for SCID. 2010. ↩︎
Betermier M, et al. NHEJ targeting in cancer. 2014. ↩︎