LIG4 Antibody – Rabbit Polyclonal

The protein encoded by this gene is a DNA ligase that joins single-strand breaks in a double-stranded polydeoxynucleotide in an ATP-dependent reaction. This protein is essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). This protein forms a complex with the X-ray repair cross complementing protein 4 (XRCC4), and further interacts with the DNA-dependent protein kinase (DNA-PK). Both XRCC4 and DNA-PK are known to be required for NHEJ. The crystal structure of the complex formed by this protein and XRCC4 has been resolved. Defects in this gene are the cause of LIG4 syndrome. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008]

LIG4: a DNA ligase that joins single-strand breaks in a double-stranded polydeoxynucleotide in an ATP-dependent reaction. Essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). This protein forms a complex with the X-ray repair cross complementing protein 4 (XRCC4), and further interacts with the DNA-dependent protein kinase (DNA-PK). Both XRCC4 and DNA-PK are known to be required for NHEJ. Defects in this gene are the cause of LIG4 syndrome.

Protein type: EC 6.5.1.1; Ligase

Chromosomal Location of Human Ortholog: 13q33-q34

Cellular Component: nucleoplasm; DNA ligase IV complex; focal adhesion; cytoplasm; plasma membrane; condensed chromosome; DNA-dependent protein kinase complex; nucleus

Molecular Function: protein C-terminus binding; protein binding; DNA binding; DNA ligase activity; metal ion binding; DNA ligase (ATP) activity; ATP binding; ligase activity

Biological Process: central nervous system development; viral reproduction; somatic stem cell maintenance; T cell differentiation in the thymus; chromosome organization and biogenesis; double-strand break repair via nonhomologous end joining; DNA ligation; positive regulation of fibroblast proliferation; double-strand break repair; DNA ligation during DNA repair; response to gamma radiation; negative regulation of neuron apoptosis; DNA ligation during DNA recombination; response to X-ray; pro-B cell differentiation; single strand break repair; positive regulation of neurogenesis; V(D)J recombination; immunoglobulin V(D)J recombination; in utero embryonic development; isotype switching; cell cycle; DNA repair; lagging strand elongation; cell proliferation; neuron apoptosis; cell division; T cell receptor V(D)J recombination; nucleotide-excision repair, DNA gap filling

Disease: Myeloma, Multiple; Lig4 Syndrome