XLF Recombinant Rabbit Monoclonal Antibody - BSA and Azide free [PSH01-07] (HA750682)

UNIPROT #

Q9H9Q4

PROTEIN NAME

XLF

SYNONYMS

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

SUBCELLULAR LOCATION

Nucleus, Chromosome.

FUNCTION

Non-homologous end-joining factor 1 (NHEJ1), also known as Cernunnos or XRCC4-like factor (XLF), is a protein that in humans is encoded by the NHEJ1 gene. XLF was originally discovered as the protein mutated in five patients with growth retardation, microcephaly, and immunodeficiency. The protein is required for the non-homologous end joining (NHEJ) pathway of DNA repair. Patients with XLF mutations also have immunodeficiency due to a defect in V(D)J recombination, which uses NHEJ to generate diversity in the antibody repertoire of the immune system. XLF interacts with DNA ligase IV and XRCC4 and is thought to be involved in the end-bridging or ligation steps of NHEJ. The yeast (Saccharomyces cerevisiae) homolog of XLF is Nej1. In contrast to the profound immunodeficiency phenotype of XLF deletion in humans, deletion of XLF alone has a mild phenotype in mice. However, combining a deletion of XLF with deletion of the ATM kinase causes a synthetic defect in NHEJ, suggesting partial redundancy in the function of these two proteins in mice.