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Gene : LIG4 Homo sapiens

Name  ? DNA ligase 4 Cytological Location  13q33.3
Brief Description  DNA ligase 4
description  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]
  • synonyms:
  • polydeoxyribonucleotide synthase [ATP] 4,
  • HGNC:6601,
  • uc001vqp.4,
  • DNA repair enzyme,
  • DNA joinase,
  • NM_002312,
  • sealase,
  • LIG4,
  • polynucleotide ligase,
  • LIG4S,
  • ligase IV, DNA, ATP-dependent,
  • OTTHUMG00000017328,
  • X83441
  • identifiers:
  • 3981,
  • ENSG00000174405,
  • LIG4

Genome feature

Region: gene ? Length: 10927  
Location: 13:108207442-108218368 reverse strand Cyto location: 13q33.3


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Disease

2 Diseases

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518 SN Ps

5 Cross References

19 Data Sets

6 Homologues

0 Located Features

90 Rna Seq Results