Rabbit anti-Human NHEJ1 Polyclonal Antibody

Uniprot Id

Q9H9Q4

Target Species

Human

Target Name

NHEJ1

Target Full Name

Non-homologous end-joining factor 1

Target Function

DNA repair protein involved in DNA non-homologous end joining (NHEJ); required for double-strand break (DSB) repair and V(D)J recombination. Plays a key role in NHEJ by promoting the ligation of various mismatched and non-cohesive ends. Together with PAXX, collaborates with DNA polymerase lambda (POLL) to promote joining of non-cohesive DNA ends. May act in concert with XRCC5-XRCC6 (Ku) to stimulate XRCC4-mediated joining of blunt ends and several types of mismatched ends that are non-complementary or partially complementary. Associates with XRCC4 to form alternating helical filaments that bridge DNA and act like a bandage, holding together the broken DNA until it is repaired. The XRCC4-NHEJ1/XLF subcomplex binds to the DNA fragments of a DSB in a highly diffusive manner and robustly bridges two independent DNA molecules, holding the broken DNA fragments in close proximity to one other. The mobility of the bridges ensures that the ends remain accessible for further processing by other repair factors. Binds DNA in a length-dependent manner.

Target Involvement

Severe combined immunodeficiency due to NHEJ1 deficiency (NHEJ1-SCID)

Target Subcellular Location

Nucleus. Chromosome.

Target Protein Families

XLF family

Target Tissue Specificity

Ubiquitously expressed.

Target Synonyms

Cernunnos; FLJ12610; NHEJ 1; Nhej1; NHEJ1, S. cerevisiae, homolog of; NHEJ1_HUMAN; Non homologous end joining factor 1; Non-homologous end-joining factor 1; Nonhomologous end joining factor 1; OTTHUMP00000164168; OTTHUMP00000206275; OTTHUMP00000206279; Protein cernunnos; XLF; XRCC4 like factor; XRCC4-like factor

Target Background

Double-strand breaks in DNA result from genotoxic stresses and are among the most damaging of DNA lesions. This gene encodes a DNA repair factor essential for the nonhomologous end-joining pathway, which preferentially mediates repair of double-stranded breaks. Mutations in this gene cause different kinds of severe combined immunodeficiency disorders.