Target intelligence / Profile preview

Non-homologous end-joining factor 1 (NHEJ1)

Target
NHEJ1
Molecular classification
Other (DNA repair protein)
01

Overview

Non-homologous end-joining factor 1 (NHEJ1), also known as XLF or Cernunnos, is a DNA repair protein essential for the non-homologous end joining (NHEJ) pathway, which mediates the repair of DNA double-strand breaks (DSBs)[1][2][5]. NHEJ1 is required for the ligation steps that rejoin DNA ends and is also involved in critical processes such as V(D)J recombination, necessary for immune diversity[1][2][5]. The protein interacts with key repair factors, including XRCC4 and DNA ligase IV, forming complexes that bridge and stabilize DNA ends prior to ligation[1][2][5]. Dysfunction or mutation in NHEJ1 results in severe combined immunodeficiency, developmental defects, and increased sensitivity to DNA-damaging agents, underlining its essential role in genome integrity and immune system function[1][2][4][5].

Other names
XLFCernunnosXRCC4-like factorprotein cernunnosFLJ12610IMD124MCOPCB13nonhomologous end-joining factor 1Nej1 (yeast homolog)
02

Biological functions

DNA repairNon-homologous end joining (NHEJ)Double-strand break (DSB) repairV(D)J recombinationTelomere maintenance
03

Disease associations

Severe combined immunodeficiencyMicrocephalyGrowth retardationImmunodeficiencyAccelerated hematopoietic stem cell agingOther
04

Safety considerations

Deficiency can lead to severe combined immunodeficiency (impaired immune response), microcephaly, growth defects, increased DNA damage sensitivity, and premature stem cell aging[1][2][4][5].

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